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Results for "GRIN2B"
Variant Events: 170
Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
GRIN2B
AU3847302
chr12:
14348422-14348422
G
C
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
1-0486-003
chr12:
13779362-13779362
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
GRIN2B
HEN0197.p1
chr12:
13906263-13906263
T
C
exonic
Maternal
nonsynonymous SNV
NM_000834
c.A998G
p.N333S
10.57
1.647E-5
Guo2018
T
GRIN2B
SJD_15.3
chr12:
13715762-13715762
A
G
exonic
De novo
synonymous SNV
NM_000834
c.T4410C
p.N1470N
-
2.471E-5
Trost2022
G
Zhou2022
G
E
GRIN2B
2-0202-004
chr12:
14476732-14476732
G
GTTCATTTT
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
SD0032.p1
chr12:
13716168-13716168
G
A
exonic
Maternal
nonsynonymous SNV
NM_000834
c.C4004T
p.P1335L
15.08
-
Guo2018
T
GRIN2B
SP0045624
chr12:
13906436-13906457
AGTGGGGAACTCCGCAGGCACT
A
exonic
nonframeshift deletion
NM_000834
c.804_824del
p.268_275del
-
-
Zhou2022
G
E
GRIN2B
HEN0101.p1
chr12:
13715830-13715830
T
C
exonic
Maternal
nonsynonymous SNV
NM_000834
c.A4342G
p.I1448V
10.7
-
Guo2018
T
GRIN2B
SMHC01859s000
chr12:
13768500-13768500
T
C
exonic
De novo
nonsynonymous SNV
NM_000834
c.A1427G
p.Y476C
23.9
-
Yuan2023
E
GRIN2B
2-1540-003
chr12:
13720042-13720042
C
T
exonic
De novo
nonsynonymous SNV
NM_000834
c.G2515A
p.E839K
36.0
-
Trost2022
G
Zhou2022
G
E
GRIN2B
AU058104
chr12:
13918351-13918351
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
GRIN2B
1-0395-004
chr12:
14427878-14427878
T
C
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
G01-GEA-67-HI
chr12:
13724822-13724822
C
T
exonic
De novo
nonsynonymous SNV
NM_000834
c.G2087A
p.R696H
35.0
-
Fu2022
E
Lim2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
GRIN2B
1-0412-003
chr12:
14184455-14184455
A
T
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
Husson2020:136
chr12:
14019119-14019119
A
AG
exonic
frameshift insertion
NM_000834
c.23_24insC
p.C8fs
-
-
Husson2020
E
GRIN2B
M12312
chr12:
13717054-13717054
C
T
exonic
Maternal
nonsynonymous SNV
NM_000834
c.G3118A
p.G1040S
16.14
1.649E-5
Guo2018
T
Wang2016
T
GRIN2B
AU030703
chr12:
14018857-14018857
C
A
exonic
Unknown
nonsynonymous SNV
NM_000834
c.G286T
p.G96W
24.5
-
Stessman2017
T
GRIN2B
AU4306302
chr12:
14482997-14482997
G
A
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
M12487
chr12:
13716489-13716489
G
A
exonic
Paternal
nonsynonymous SNV
NM_000834
c.C3683T
p.T1228M
0.251
3.298E-5
Guo2018
T
Wang2016
T
GRIN2B
M17613
chr12:
13716489-13716489
G
A
exonic
Paternal
nonsynonymous SNV
NM_000834
c.C3683T
p.T1228M
0.251
3.298E-5
Guo2018
T
Wang2016
T
GRIN2B
AU3853302
chr12:
13735124-13735124
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
GRIN2B
G01-GEA-123-HI
chr12:
13717565-13717565
G
C
exonic
De novo
stopgain
NM_000834
c.C2607G
p.Y869X
41.0
-
Fu2022
E
Lim2017
E
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
GRIN2B
7-0167-003
chr12:
13725273-13725273
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
GRIN2B
SAGE_BK789-01
chr12:
13724849-13724849
G
A
exonic
De novo
nonsynonymous SNV
NM_000834
c.C2060T
p.P687L
34.0
-
Wang2020
T
GRIN2B
12681_p1
chr12:
13722953-13722953
T
C
splicing
De novo
splicing
17.06
-
Fu2022
E
GRIN2B
M16260
chr12:
13715854-13715854
C
A
exonic
Maternal
nonsynonymous SNV
NM_000834
c.G4318T
p.A1440S
0.895
8.239E-6
Guo2018
T
Wang2016
T
GRIN2B
1-0162-004
chr12:
14201879-14201879
A
G
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
A27
chr12:
14481761-14481761
T
G
intergenic
De novo
-
-
Wu2018
G
GRIN2B
M8862
chr12:
13716157-13716157
T
C
exonic
Unknown
nonsynonymous SNV
NM_000834
c.A4015G
p.M1339V
11.19
-
Wang2016
T
GRIN2B
1-0214-003
chr12:
14133666-14133666
G
A
upstream
De novo
-
-
Trost2022
G
Yuen2017
G
GRIN2B
ACGC_M20277
chr12:
13768147-13768147
G
A
exonic
De novo
stopgain
NM_000834
c.C1555T
p.R519X
40.0
8.24E-6
Wang2020
T
GRIN2B
1-0534-006
chr12:
14419294-14419294
A
C
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
05C44735
chr12:
13768147-13768147
G
A
exonic
De novo
stopgain
NM_000834
c.C1555T
p.R519X
40.0
8.24E-6
Fu2022
E
Satterstrom2020
E
Trost2022
G
Zhou2022
G
E
GRIN2B
HEN0293.p1
chr12:
13761764-13761764
G
C
exonic
Paternal
nonsynonymous SNV
NM_000834
c.C1783G
p.P595A
15.91
8.298E-6
Guo2018
T
GRIN2B
JS0047.p1
chr12:
13716157-13716157
T
C
exonic
Paternal
nonsynonymous SNV
NM_000834
c.A4015G
p.M1339V
11.19
-
Guo2018
T
GRIN2B
Yamamoto2019:11
chr12:
13720107-13720107
T
C
exonic
De novo
nonsynonymous SNV
NM_000834
c.A2450G
p.N817S
26.4
-
Yamamoto2019
T
GRIN2B
HEN0329.p1
chr12:
13906263-13906263
T
C
exonic
Paternal
nonsynonymous SNV
NM_000834
c.A998G
p.N333S
10.57
1.647E-5
Guo2018
T
GRIN2B
5-0073-003
chr12:
14188837-14188837
C
T
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
2-1620-003
chr12:
14497912-14497918
CTATGAT
C
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
M12425
chr12:
13716667-13716667
C
T
exonic
Maternal, Unknown
nonsynonymous SNV
NM_000834
c.G3505A
p.G1169R
11.84
3.301E-5
Guo2018
T
Wang2016
T
GRIN2B
1-0494-003
chr12:
14419105-14419105
T
C
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
HN0099.p1
chr12:
13906497-13906497
G
A
exonic
Paternal
nonsynonymous SNV
NM_000834
c.C764T
p.T255M
19.16
8.242E-6
Guo2018
T
GRIN2B
1-0986-003
chr12:
14143443-14143443
T
C
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
GX0024.p1
chr12:
13717061-13717061
G
T
exonic
Paternal
nonsynonymous SNV
NM_000834
c.C3111A
p.D1037E
10.96
1.648E-5
Guo2018
T
GRIN2B
GX0485.p1
chr12:
13828782-13828782
T
C
exonic
Paternal
nonsynonymous SNV
NM_000834
c.A1022G
p.N341S
23.5
-
Guo2018
T
GRIN2B
GX0394.p1
chr12:
13717061-13717061
G
T
exonic
Paternal
nonsynonymous SNV
NM_000834
c.C3111A
p.D1037E
10.96
1.648E-5
Guo2018
T
GRIN2B
SAGE_559.03
chr12:
13722953-13722953
T
C
splicing
De novo
splicing
17.06
-
Wang2020
T
GRIN2B
SP0017489
chr12:
13769373-13769373
T
G
intronic
De novo
-
-
Fu2022
E
GRIN2B
SP0109367
chr12:
13717381-13717381
C
T
exonic
De novo
nonsynonymous SNV
NM_000834
c.G2791A
p.V931I
0.198
-
Fu2022
E
Trost2022
G
Zhou2022
G
E
GRIN2B
12681.p1
chr12:
13722953-13722953
T
C
splicing
De novo
splicing
17.06
-
Iossifov2014
E
Ji2016
E
Kosmicki2017
E
O’Roak2012a
T
O’Roak2014
T
Satterstrom2020
E
Trost2022
G
Wang2020
T
Wilfert2021
G
Willsey2013
E
Zhou2022
G
E
GRIN2B
12547.p1
chr12:
13764762-13764762
C
T
exonic
De novo
stopgain
NM_000834
c.G1677A
p.W559X
41.0
-
Iossifov2014
E
Ji2016
E
Kosmicki2017
E
O’Roak2012a
T
O’Roak2014
T
Satterstrom2020
E
Wang2020
T
Willsey2013
E
Zhou2022
G
E
GRIN2B
SP0048255
chr12:
13716277-13716277
G
A
exonic
De novo
nonsynonymous SNV
NM_000834
c.C3895T
p.R1299C
15.04
-
Fu2022
E
Trost2022
G
Zhou2022
G
E
GRIN2B
13932.p1
chr12:
13768560-13768560
C
T
exonic
De novo
nonsynonymous SNV
NM_000834
c.G1367A
p.C456Y
27.6
-
Iossifov2014
E
Ji2016
E
Kosmicki2017
E
O’Roak2012a
T
O’Roak2014
T
Satterstrom2020
E
Wang2020
T
Wilfert2021
G
Zhou2022
G
E
GRIN2B
11540.p1
chr12:
13848538-13848538
C
T
intronic
Mosaic
-
-
Dou2017
E
GRIN2B
SP0142921
chr12:
13761536-13761536
C
G
splicing
De novo
splicing
26.5
-
Fu2022
E
Zhou2022
G
E
GRIN2B
11691.p1
Complex Event; expand row to view variants
De novo
frameshift insertion
NM_000834
NM_000834
c.99dupC
c.98dupC
p.S34fs
p.P33fs
-
2.0E-4
Iossifov2014
E
Ji2016
E
Kosmicki2017
E
O’Roak2012a
T
O’Roak2014
T
Wilfert2021
G
Willsey2013
E
Zhou2022
G
E
GRIN2B
2-0013-003
chr12:
14419309-14419309
G
A
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
M20615
chr12:
13769519-13769519
C
T
exonic
Paternal
nonsynonymous SNV
NM_000834
c.G1198A
p.E400K
13.8
-
Guo2018
T
Wang2016
T
GRIN2B
M20277
chr12:
13768147-13768147
G
A
exonic
De novo
stopgain
NM_000834
c.C1555T
p.R519X
40.0
8.24E-6
Guo2018
T
Stessman2017
T
Stessman2017
T
Wang2016
T
GRIN2B
SAGE_BK787-01
chr12:
13724822-13724822
C
T
exonic
De novo
nonsynonymous SNV
NM_000834
c.G2087A
p.R696H
35.0
-
Wang2020
T
GRIN2B
AU3951301
chr12:
14323534-14323536
AAG
AAAGAG
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
B9M7F
chr12:
13828767-13828767
C
T
exonic
Unknown
nonsynonymous SNV
NM_000834
c.G1037A
p.G346E
29.1
-
Stessman2017
T
GRIN2B
ACGC_SX0065.p1
chr12:
13724822-13724822
C
T
exonic
Unknown
nonsynonymous SNV
NM_000834
c.G2087A
p.R696H
35.0
-
Wang2020
T
GRIN2B
SP0017047
chr12:
13717441-13717441
G
A
exonic
De novo
synonymous SNV
NM_000834
c.C2731T
p.L911L
-
-
Feliciano2019
E
Fu2022
E
Trost2022
G
Zhou2022
G
E
GRIN2B
08C77366
chr12:
13768467-13768467
C
G
exonic
De novo
nonsynonymous SNV
NM_000834
c.G1460C
p.G487A
32.0
-
Stessman2017
T
GRIN2B
5-0025-004
chr12:
14472241-14472241
T
C
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
2-0307-003
chr12:
14047382-14047382
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
GRIN2B
Mahjani2021:35
chr12:
13719963-13719963
C
CTGAT
exonic
frameshift insertion
NM_000834
c.2593_2594insATCA
p.S865fs
-
-
Mahjani2021
E
GRIN2B
2-1508-003
chr12:
14148783-14148783
A
G
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
Mahjani2021:36
chr12:
13720137-13720137
T
TCATTCTTCTCA
exonic
frameshift insertion
NM_000834
c.2419_2420insTGAGAAGAATG
p.E807fs
-
-
Mahjani2021
E
GRIN2B
SSC05465
chr12:
13722953-13722953
T
C
splicing
splicing
17.06
-
Antaki2022
G
E
GRIN2B
Mahjani2021:46
chr12:
13724865-13724865
G
A
exonic
nonsynonymous SNV
NM_000834
c.C2044T
p.R682C
34.0
-
Mahjani2021
E
GRIN2B
SP0010540
chr12:
13761545-13761545
C
T
exonic
De novo
nonsynonymous SNV
NM_000834
c.G2002A
p.D668N
34.0
-
Antaki2022
G
E
Fu2022
E
Trost2022
G
Zhou2022
G
E
GRIN2B
SP0070933
chr12:
13724853-13724853
C
T
exonic
De novo
nonsynonymous SNV
NM_000834
c.G2056A
p.V686M
33.0
-
Antaki2022
G
E
Fu2022
E
Trost2022
G
Zhou2022
G
E
GRIN2B
M21987
chr12:
13717337-13717337
G
C
exonic
Paternal, Unknown
nonsynonymous SNV
NM_000834
c.C2835G
p.D945E
16.28
-
Guo2018
T
Wang2016
T
GRIN2B
Mahjani2021:41
chr12:
13724822-13724822
C
T
exonic
nonsynonymous SNV
NM_000834
c.G2087A
p.R696H
35.0
-
Mahjani2021
E
GRIN2B
mAGRE5751
chr12:
13768467-13768467
C
G
exonic
De novo
nonsynonymous SNV
NM_000834
c.G1460C
p.G487A
32.0
-
Cirnigliaro2023
G
GRIN2B
1-0651-003
chr12:
14439380-14439380
C
T
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
Mahjani2021:48
chr12:
13769581-13769581
C
T
exonic
stopgain
NM_000834
c.G1136A
p.W379X
40.0
-
Mahjani2021
E
GRIN2B
SP0059887
chr12:
13768490-13768490
G
T
exonic
De novo
stopgain
NM_000834
c.C1437A
p.Y479X
40.0
-
Antaki2022
G
E
Fu2022
E
Trost2022
G
Zhou2022
G
E
GRIN2B
Mahjani2021:47
chr12:
13768083-13768083
C
T
exonic
nonsynonymous SNV
NM_000834
c.G1619A
p.R540H
29.6
-
Mahjani2021
E
GRIN2B
SSC06040
chr12:
13764762-13764762
C
T
exonic
De novo
stopgain
NM_000834
c.G1677A
p.W559X
41.0
-
Antaki2022
G
E
Fu2022
E
Trost2022
G
GRIN2B
SSC02952
chr12:
14019043-14019043
T
TG
exonic
frameshift insertion
NM_000834
c.99dupC
p.S34fs
-
2.0E-4
Antaki2022
G
E
GRIN2B
SSC10172
chr12:
13768560-13768560
C
T
exonic
De novo
nonsynonymous SNV
NM_000834
c.G1367A
p.C456Y
27.6
-
Antaki2022
G
E
Trost2022
G
GRIN2B
Leuven2_66295205
chr12:
13717308-13717310
TCA
T
exonic
Unknown
frameshift deletion
NM_000834
c.2862_2863del
p.C954fs
-
-
Wang2020
T
GRIN2B
Leuven_150281
chr12:
13906250-13906250
C
T
splicing
Unknown
splicing
22.9
-
Wang2020
T
GRIN2B
M12406
chr12:
14019049-14019049
G
T
exonic
Maternal
nonsynonymous SNV
NM_000834
c.C94A
p.P32T
12.42
-
Guo2018
T
Wang2016
T
GRIN2B
Leuven_73101263
chr12:
13720163-13720163
A
ACATTGTGACAAATGCCA
exonic
Unknown
frameshift insertion
NM_000834
c.2393_2394insTGGCATTTGTCACAATG
p.T798fs
-
-
Wang2020
T
GRIN2B
GX0019.p1
chr12:
14019115-14019115
G
A
exonic
Maternal
nonsynonymous SNV
NM_000834
c.C28T
p.P10S
14.61
-
Guo2018
T
GRIN2B
Leuven_185718
chr12:
13764658-13764658
C
T
splicing
Unknown
splicing
34.0
-
Wang2020
T
GRIN2B
Leuven_74764077
chr12:
13768132-13768132
C
T
exonic
Unknown
nonsynonymous SNV
NM_000834
c.G1570A
p.D524N
36.0
-
Wang2020
T
GRIN2B
12175.p1
chr12:
14330773-14330773
G
T
intergenic
De novo
-
-
Turner2016
G
GRIN2B
13298.p1
chr12:
14036159-14036159
G
A
intronic
De novo
-
-
Turner2016
G
GRIN2B
12175.p1
chr12:
14330770-14330770
T
G
intergenic
De novo
-
-
Turner2016
G
GRIN2B
1-0395-003
chr12:
14427878-14427878
T
C
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
1-0539-003
chr12:
13966812-13966812
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
GRIN2B
SAGE_BK_662_01
chr12:
13761545-13761545
C
A
exonic
Unknown
nonsynonymous SNV
NM_000834
c.G2002T
p.D668Y
25.3
-
Wang2020
T
GRIN2B
AGRE_AU030703
chr12:
14018857-14018857
C
A
exonic
Unknown
nonsynonymous SNV
NM_000834
c.G286T
p.G96W
24.5
-
Wang2020
T
GRIN2B
Greenwood_Cms23857
chr12:
13768146-13768146
C
T
exonic
Unknown
nonsynonymous SNV
NM_000834
c.G1556A
p.R519Q
37.0
-
Wang2020
T
GRIN2B
ACGC_GD0231.p1
chr12:
13768083-13768083
C
T
exonic
Unknown
nonsynonymous SNV
NM_000834
c.G1619A
p.R540H
29.6
-
Wang2020
T
GRIN2B
AGRE_04C24300
chr12:
14018857-14018857
C
A
exonic
Unknown
nonsynonymous SNV
NM_000834
c.G286T
p.G96W
24.5
-
Wang2020
T
GRIN2B
Leuven2_73101263
chr12:
13720146-13720146
T
TCATTGTGACAAATGCCA
exonic
Unknown
frameshift insertion
NM_000834
c.2410_2411insTGGCATTTGTCACAATG
p.E804fs
-
-
Wang2020
T
GRIN2B
2-1444-003
chr12:
13815101-13815101
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2016
G
Yuen2017
G
GRIN2B
04C24300
chr12:
14018857-14018857
C
A
exonic
Unknown
nonsynonymous SNV
NM_000834
c.G286T
p.G96W
24.5
-
Stessman2017
T
GRIN2B
SanDiego_B9M7F
chr12:
13828767-13828767
C
T
exonic
Unknown
nonsynonymous SNV
NM_000834
c.G1037A
p.G346E
29.1
-
Wang2020
T
GRIN2B
SAGE_549.03
chr12:
13768560-13768560
C
T
exonic
Unknown
nonsynonymous SNV
NM_000834
c.G1367A
p.C456Y
27.6
-
Wang2020
T
GRIN2B
SAGE_BK_642.01
chr12:
13716735-13716735
C
T
exonic
Unknown
stopgain
NM_000834
c.G3437A
p.W1146X
41.0
-
Wang2020
T
GRIN2B
150281
chr12:
13906250-13906250
C
T
splicing
Inherited
splicing
22.9
-
Stessman2017
T
GRIN2B
SP0237868
chr12:
13906723-13906723
G
A
exonic
stopgain
NM_000834
c.C538T
p.Q180X
39.0
-
Zhou2022
G
E
GRIN2B
AU047703
chr12:
13950399-13950399
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
GRIN2B
SP0352072
chr12:
13768146-13768146
C
T
exonic
nonsynonymous SNV
NM_000834
c.G1556A
p.R519Q
37.0
-
Zhou2022
G
E
GRIN2B
AU3692302
chr12:
14316268-14316268
C
A
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
SP0177846
chr12:
13720180-13720180
C
T
exonic
nonsynonymous SNV
NM_000834
c.G2377A
p.E793K
33.0
-
Zhou2022
G
E
GRIN2B
Kenny2014:6
chr12:
13724778-13724778
G
A
exonic
Unknown
stopgain
NM_000834
c.C2131T
p.Q711X
42.0
-
Kenny2014
T
GRIN2B
M16114
chr12:
13715902-13715902
G
A
exonic
Maternal
nonsynonymous SNV
NM_000834
c.C4270T
p.L1424F
8.686
2.476E-5
Guo2018
T
Wang2016
T
GRIN2B
SP0264509
chr12:
13716406-13716406
C
T
exonic
nonsynonymous SNV
NM_000834
c.G3766A
p.E1256K
22.2
-
Zhou2022
G
E
GRIN2B
SP0157716
chr12:
13761710-13761710
C
T
exonic
De novo
nonsynonymous SNV
NM_000834
c.G1837A
p.V613M
29.1
-
Trost2022
G
Zhou2022
G
E
GRIN2B
185718
chr12:
13764658-13764658
C
T
splicing
Inherited
splicing
34.0
-
Stessman2017
T
GRIN2B
SP0320116
chr12:
13724822-13724822
C
T
exonic
nonsynonymous SNV
NM_000834
c.G2087A
p.R696H
35.0
-
Zhou2022
G
E
GRIN2B
M15056
chr12:
13715916-13715916
G
A
exonic
Maternal
nonsynonymous SNV
NM_000834
c.C4256T
p.P1419L
14.84
8.26E-6
Guo2018
T
Wang2016
T
GRIN2B
M3803
chr12:
13716156-13716156
A
G
exonic
Maternal
nonsynonymous SNV
NM_000834
c.T4016C
p.M1339T
12.0
-
Wang2016
T
GRIN2B
2-1485-003
chr12:
14419082-14419082
A
G
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
ASD046
chr12:
13722914-13722914
T
TC
exonic
De novo
frameshift insertion
NM_000834
c.2208dupG
p.N737fs
-
-
Tran2020
E
Wu2019
E
GRIN2B
MAC880
chr12:
13906566-13906566
C
T
exonic
De novo
nonsynonymous SNV
NM_000834
c.G695A
p.C232Y
21.8
-
Fu2022
E
GRIN2B
7-0456-003
chr12:
13790450-13790450
A
G
intronic
De novo
-
-
Trost2022
G
GRIN2B
A1334B
chr12:
14019043-14019043
T
TG
exonic
De novo
frameshift insertion
NM_000834
c.99dupC
p.S34fs
-
2.0E-4
Fu2022
E
GRIN2B
AU2283301
chr12:
13815503-13815503
G
T
intronic
De novo
-
-
Trost2022
G
GRIN2B
7-0048-003
chr12:
13750949-13750949
C
T
intronic
De novo
-
-
Trost2022
G
GRIN2B
AU2604301
chr12:
13759325-13759325
T
A
intronic
De novo
-
-
Trost2022
G
GRIN2B
MT_31.3
chr12:
13745168-13745168
G
A
intronic
De novo
-
-
Trost2022
G
GRIN2B
A21
chr12:
14393717-14393717
C
T
intergenic
De novo
-
-
Wu2018
G
GRIN2B
7-0388-003
chr12:
13747338-13747338
C
T
intronic
De novo
-
-
Trost2022
G
GRIN2B
5902
chr12:
14019043-14019043
T
TG
exonic
De novo
frameshift insertion
NM_000834
c.99dupC
p.S34fs
-
2.0E-4
Fu2022
E
GRIN2B
MSSNG00361-004
chr12:
13725704-13725704
C
T
intronic
De novo
-
-
Trost2022
G
GRIN2B
10-1104-004
chr12:
13733493-13733493
G
A
intronic
De novo
-
-
Trost2022
G
GRIN2B
SF0059887.p1
chr12:
13768490-13768490
G
T
exonic
stopgain
NM_000834
c.C1437A
p.Y479X
40.0
-
Wang2020
T
GRIN2B
2-1790-003
chr12:
13919978-13919978
C
G
intronic
De novo
-
-
Trost2022
G
GRIN2B
SF0010540.p1
chr12:
13761545-13761545
C
T
exonic
nonsynonymous SNV
NM_000834
c.G2002A
p.D668N
34.0
-
Wang2020
T
GRIN2B
5-0086-003
chr12:
13936204-13936204
A
G
intronic
De novo
-
-
Trost2022
G
GRIN2B
MSSNG00030-003
chr12:
13900714-13900714
G
A
intronic
De novo
-
-
Trost2022
G
GRIN2B
3-0607-001
chr12:
13911168-13911168
C
G
intronic
De novo
-
-
Trost2022
G
GRIN2B
SF0109366.p2
chr12:
13717381-13717381
C
T
exonic
nonsynonymous SNV
NM_000834
c.G2791A
p.V931I
0.198
-
Wang2020
T
GRIN2B
7-0199-003
chr12:
13851377-13851377
T
C
intronic
De novo
-
-
Trost2022
G
GRIN2B
SF0048255.p1
chr12:
13716277-13716277
G
A
exonic
nonsynonymous SNV
NM_000834
c.C3895T
p.R1299C
15.04
-
Wang2020
T
GRIN2B
AU2729301
chr12:
13874031-13874031
T
C
intronic
De novo
-
-
Trost2022
G
GRIN2B
2-1416-004
chr12:
14476977-14476977
C
A
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
SF0142921.p1
chr12:
13761536-13761536
C
G
splicing
splicing
26.5
-
Wang2020
T
GRIN2B
1-0319-003
chr12:
13820046-13820046
G
C
intronic
De novo
-
-
Trost2022
G
GRIN2B
SF0070933.p1
chr12:
13724853-13724853
C
T
exonic
nonsynonymous SNV
NM_000834
c.G2056A
p.V686M
33.0
-
Wang2020
T
GRIN2B
REACH000293
chr12:
13821590-13821590
G
A
intronic
De novo
-
-
Trost2022
G
GRIN2B
REACH000182
chr12:
13985087-13985089
CTA
C
intronic
De novo
-
-
Trost2022
G
GRIN2B
5-5057-003
chr12:
13990194-13990194
C
T
intronic
De novo
-
-
Trost2022
G
GRIN2B
1-0186-004
chr12:
13962846-13962846
T
G
intronic
De novo
-
-
Trost2022
G
GRIN2B
AU3881301
chr12:
14196220-14196220
C
T
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
AU2463301
chr12:
13977209-13977209
G
A
intronic
De novo
-
-
Trost2022
G
GRIN2B
216-4499-1
chr12:
13768129-13768129
A
C
exonic
De novo
nonsynonymous SNV
NM_000834
c.T1573G
p.F525V
32.0
-
O’Roak2014
T
GRIN2B
2-1546-003
chr12:
13955111-13955111
T
G
intronic
De novo
-
-
Trost2022
G
GRIN2B
1-0186-004
chr12:
13962838-13962843
CTGTGG
ACA
intronic
De novo
-
-
Trost2022
G
GRIN2B
M08862
chr12:
13716157-13716157
T
C
exonic
Paternal
nonsynonymous SNV
NM_000834
c.A4015G
p.M1339V
11.19
-
Guo2018
T
GRIN2B
REACH000589
chr12:
13939935-13939935
C
A
intronic
De novo
-
-
Trost2022
G
GRIN2B
25
chr12:
13764781-13764781
G
A
exonic
De novo
nonsynonymous SNV
NM_000834
c.C1658T
p.P553L
19.92
-
O’Roak2014
T
GRIN2B
5-0068-003
chr12:
13948922-13948922
G
A
intronic
De novo
-
-
Trost2022
G
GRIN2B
5-5057-003
chr12:
14123868-14123868
A
G
intronic
De novo
-
-
Trost2022
G
GRIN2B
AU3881301
chr12:
14299537-14299537
G
A
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
MSSNG00434-003
chr12:
14077003-14077003
G
A
intronic
De novo
-
-
Trost2022
G
GRIN2B
2-1297-004
chr12:
14310804-14310804
G
T
intergenic
De novo
-
-
Yuen2017
G
GRIN2B
2-1592-003
chr12:
14091221-14091222
GA
G
intronic
De novo
-
-
Trost2022
G
GRIN2B
Stessman2017:ASD_1032-1
chr12:
13716708-13716715
TAGATGTC
TAGATGTTAGATGTC
exonic
Inherited
stopgain
NM_000834
c.3464_3465insACATCTA
p.Y1155_K1156delinsX
-
-
Stessman2017
T
GRIN2B
4-0073-003
chr12:
13991478-13991479
CT
GA
intronic
De novo
-
-
Trost2022
G
GRIN2B
7-0189-003
chr12:
14007882-14007882
C
T
intronic
De novo
-
-
Trost2022
G
Source Variant Information
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, -
Source:
Paper alias:
No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes
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