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Results for "ERBB4"
Variant Events: 153
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
ERBB4
2-1180-003
chr2:
212335361-212335361
T
G
intronic
De novo
-
-
Yuen2016
G
Yuen2017
G
ERBB4
1-0443-003
chr2:
212320643-212320643
G
GC
intronic
De novo
-
-
Yuen2016
G
ERBB4
1-0567-003
chr2:
212332141-212332141
C
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
2-1456-004
chr2:
212526045-212526048
GAAC
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
2-1594-003
chr2:
212748324-212748324
T
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
2-1509-003
Complex Event; expand row to view variants
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
AU3636301
chr2:
213362391-213362391
C
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
2-0256-004
chr2:
213061744-213061744
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
1-0460-003
chr2:
213358490-213358490
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
AU4410302
chr2:
212910432-212910432
G
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
5-0003-003
chr2:
212586772-212586772
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
1-0065-005
chr2:
212863320-212863323
ATTT
A
intronic
De novo
-
-
Yuen2017
G
ERBB4
1-0524-003
chr2:
212450885-212450885
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
2-1350-004
chr2:
212606792-212606792
G
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
7-0188-003
chr2:
212773502-212773502
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
AU0039303
chr2:
213297711-213297711
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
1-0372-003
chr2:
212253825-212253825
A
G
intronic
De novo
-
-
Yuen2017
G
ERBB4
PN400489
chr2:
212289007-212289007
C
CAGTTCCCATATAGTAACTCCTATATTGGAGAAAA
exonic
Unknown
frameshift insertion
NM_001042599
NM_005235
c.2738_2739insTTTTCTCCAATATAGGAGTTACTATATGGGAACT
c.2738_2739insTTTTCTCCAATATAGGAGTTACTATATGGGAACT
p.L913fs
p.L913fs
-
-
Leblond2019
E
ERBB4
2-1399-003
chr2:
213024898-213024898
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
2-1168-003
chr2:
212376471-212376471
T
C
intronic
De novo
-
-
Yuen2016
G
Yuen2017
G
ERBB4
AU4092302
chr2:
213362522-213362522
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
3-0434-000
chr2:
212959707-212959707
C
A
intronic
De novo
-
-
Yuen2017
G
ERBB4
5-0065-003
chr2:
213557346-213557346
A
G
intergenic
De novo
-
-
Yuen2017
G
ERBB4
Codina-Sola2015:ASD_19
chr2:
212495269-212495269
A
G
exonic
Paternal
nonsynonymous SNV
NM_001042599
NM_005235
c.T1997C
c.T1997C
p.I666T
p.I666T
23.2
8.243E-6
Codina-Sola2015
E
ERBB4
AU3368302
chr2:
213628035-213628035
G
T
intergenic
De novo
-
-
Yuen2017
G
ERBB4
2-1526-004
chr2:
212926219-212926222
GACA
G
intronic
De novo
-
-
Yuen2017
G
ERBB4
13649.p1
chr2:
212624578-212624578
C
T
intronic
De novo
-
-
Turner2016
G
ERBB4
13023.p1
chr2:
213226763-213226763
T
C
intronic
De novo
-
-
Turner2016
G
ERBB4
AU4015302
chr2:
212987600-212987600
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
14590.p1
chr2:
213381054-213381054
T
A
intronic
De novo
-
-
Turner2016
G
ERBB4
AU047904
chr2:
213437102-213437102
C
T
intergenic
De novo
-
-
Yuen2017
G
ERBB4
5-0014-004
chr2:
212422387-212422387
C
CATTGTTGT
intronic
De novo
-
-
Yuen2017
G
ERBB4
11860.p1
chr2:
212569993-212569993
T
A
intronic
De novo
-
2.0E-4
Satterstrom2020
E
ERBB4
14509.p1
chr2:
212522487-212522487
T
C
exonic
De novo
synonymous SNV
NM_001042599
NM_005235
c.A1938G
c.A1938G
p.Q646Q
p.Q646Q
-
-
Iossifov2014
E
Kosmicki2017
E
Krupp2017
E
Satterstrom2020
E
Wilfert2021
G
Zhou2022
G
E
ERBB4
1-0169-003
chr2:
213385487-213385487
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
2-1188-003
chr2:
212341824-212341824
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
2-1416-003
chr2:
212867163-212867163
C
T
intronic
De novo
-
-
Yuen2017
G
ERBB4
AU2410302
chr2:
212406264-212406264
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
1-0323-004
chr2:
212720023-212720023
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
2-1362-004
chr2:
213220047-213220047
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
2-1366-003
chr2:
212876307-212876307
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
AU025704
chr2:
212807719-212807719
A
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
1-0382-004
chr2:
212283047-212283047
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
GM184001
chr2:
212488745-212488745
C
G
exonic
De novo
nonsynonymous SNV
NM_001042599
NM_005235
c.G2104C
c.G2104C
p.G702R
p.G702R
32.0
-
Fu2022
E
ERBB4
SP0148708
chr2:
212812248-212812248
G
C
exonic
De novo
nonsynonymous SNV
NM_001042599
NM_005235
c.C328G
c.C328G
p.L110V
p.L110V
25.0
-
Fu2022
E
Trost2022
G
Zhou2022
G
E
ERBB4
AU4359301
chr2:
213003902-213003902
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
1-0638-003
chr2:
212550763-212550763
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
1-0745-003
chr2:
212524504-212524504
T
A
intronic
De novo
-
-
Yuen2017
G
ERBB4
5-0117-003
chr2:
212354562-212354562
A
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
7-0067-003
chr2:
212900122-212900122
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
36742
chr2:
212522487-212522487
T
C
exonic
De novo
synonymous SNV
NM_001042599
NM_005235
c.A1938G
c.A1938G
p.Q646Q
p.Q646Q
-
-
Fu2022
E
Trost2022
G
ERBB4
2-0285-003
chr2:
212736845-212736845
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
Lim2017:36742
chr2:
212522487-212522487
T
C
exonic
De novo
synonymous SNV
NM_001042599
NM_005235
c.A1938G
c.A1938G
p.Q646Q
p.Q646Q
-
-
Lim2017
E
ERBB4
2-0318-004
chr2:
212418491-212418491
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
AU2109302
chr2:
213091418-213091418
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
11905.p1
chr2:
212578279-212578279
G
T
exonic
Mosaic
stopgain
NM_001042599
NM_005235
c.C978A
c.C978A
p.C326X
p.C326X
33.0
-
Dou2017
E
ERBB4
1-0757-003
chr2:
212854517-212854517
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
AU2310301
chr2:
212417234-212417234
T
G
intronic
De novo
-
-
Trost2022
G
ERBB4
5-0065-003
chr2:
212421772-212421780
CAACTGCCT
C
intronic
De novo
-
-
Trost2022
G
ERBB4
MSSNG00415-003
chr2:
212352977-212352977
A
G
intronic
De novo
-
-
Trost2022
G
ERBB4
PN400128
chr2:
212289007-212289007
C
CAGTTCCCATATAGTAACTCCTATATTGGAGAAAA
exonic
Unknown
frameshift insertion
NM_001042599
NM_005235
c.2738_2739insTTTTCTCCAATATAGGAGTTACTATATGGGAACT
c.2738_2739insTTTTCTCCAATATAGGAGTTACTATATGGGAACT
p.L913fs
p.L913fs
-
-
Leblond2019
E
ERBB4
5-1043-003
chr2:
212399471-212399471
C
T
intronic
De novo
-
-
Trost2022
G
ERBB4
3-0437-000
chr2:
212277699-212277699
G
A
intronic
De novo
-
-
Trost2022
G
ERBB4
2-0272-004
chr2:
212330066-212330066
G
GAATCAAGACAAATAATAAATCAAATAACAAATAATA
intronic
De novo
-
-
Trost2022
G
ERBB4
REACH000239
chr2:
212258264-212258268
TCAAA
T
intronic
De novo
-
-
Trost2022
G
ERBB4
MSSNG00029-004
chr2:
212261627-212261627
C
T
intronic
De novo
-
-
Trost2022
G
ERBB4
1-0303-004
chr2:
213248962-213248962
G
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
AU3786301
chr2:
213585587-213585587
A
G
intergenic
De novo
-
-
Yuen2017
G
ERBB4
1-0956-003
chr2:
212543549-212543549
G
A
intronic
De novo
-
-
Trost2022
G
ERBB4
1-0303-004
chr2:
213246163-213246163
C
A
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
MSSNG00027-004
chr2:
212564698-212564698
T
A
intronic
De novo
-
-
Trost2022
G
ERBB4
AU2622301
chr2:
212514943-212514943
G
T
intronic
De novo
-
-
Trost2022
G
ERBB4
2-1416-004
chr2:
212867163-212867163
C
T
intronic
De novo
-
-
Yuen2017
G
ERBB4
5-0066-003
chr2:
212532972-212532972
A
G
intronic
De novo
-
-
Trost2022
G
ERBB4
5-0067-003
chr2:
212443767-212443767
A
G
intronic
De novo
-
-
Trost2022
G
ERBB4
2-0244-003
chr2:
212472210-212472211
CT
AA
intronic
De novo
-
-
Trost2022
G
ERBB4
AU4015303
chr2:
212987600-212987600
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
3-0129-000
chr2:
212428204-212428204
C
T
intronic
De novo
-
-
Trost2022
G
ERBB4
3-0059-000
chr2:
212441112-212441112
T
C
intronic
De novo
-
-
Trost2022
G
ERBB4
5-5131-003
chr2:
212657473-212657473
T
C
intronic
De novo
-
-
Trost2022
G
ERBB4
MSSNG00397-003
chr2:
212680698-212680698
G
A
intronic
De novo
-
-
Trost2022
G
ERBB4
MSSNG00212-003
chr2:
212620268-212620268
G
A
intronic
De novo
-
-
Trost2022
G
ERBB4
1-0876-003A
chr2:
212657057-212657057
A
G
intronic
De novo
-
-
Trost2022
G
ERBB4
1-0295-003
chr2:
212653615-212653615
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
MT_191.3
chr2:
212585206-212585206
G
T
intronic
De novo
-
-
Trost2022
G
ERBB4
MSSNG00328-003
chr2:
212603250-212603250
C
T
intronic
De novo
-
-
Trost2022
G
ERBB4
SSC03820
chr2:
212569993-212569993
T
A
intronic
De novo
-
2.0E-4
Trost2022
G
ERBB4
10-1155-004
chr2:
212576211-212576211
C
T
intronic
De novo
-
-
Trost2022
G
ERBB4
4-0108-003
chr2:
212761836-212761839
CTTA
C
intronic
De novo
-
-
Trost2022
G
ERBB4
1-0433-003
chr2:
212609825-212609825
A
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
7-0374-003
chr2:
212762687-212762687
C
T
intronic
De novo
-
-
Trost2022
G
ERBB4
7-0281-003
chr2:
212747093-212747093
T
A
intronic
De novo
-
-
Trost2022
G
ERBB4
1-0295-003
Complex Event; expand row to view variants
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
MSSNG00368-004
chr2:
212749565-212749565
C
CT
intronic
De novo
-
-
Trost2022
G
ERBB4
5-0009-003
chr2:
212727284-212727284
A
G
intronic
De novo
-
-
Trost2022
G
ERBB4
3-0548-000
chr2:
212735654-212735654
A
G
intronic
De novo
-
-
Trost2022
G
ERBB4
MSSNG00371-003
chr2:
212703222-212703222
G
A
intronic
De novo
-
-
Trost2022
G
ERBB4
1-0202-003
chr2:
212727270-212727270
A
C
intronic
De novo
-
-
Trost2022
G
ERBB4
2-1416-003A
chr2:
212867163-212867163
C
T
intronic
De novo
-
-
Trost2022
G
ERBB4
2-1270-005
chr2:
212874979-212874980
CT
C
intronic
De novo
-
-
Trost2022
G
ERBB4
MSSNG00362-004
chr2:
212830498-212830500
CTA
C
intronic
De novo
-
-
Trost2022
G
ERBB4
2-1189-003
chr2:
213526912-213526912
C
A
intergenic
De novo
-
-
Yuen2017
G
ERBB4
AU026412
chr2:
212645313-212645313
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
MSSNG00258-004
chr2:
212842052-212842052
A
G
intronic
De novo
-
-
Trost2022
G
ERBB4
SJD_79.3
chr2:
212804537-212804538
TG
T
intronic
De novo
-
-
Trost2022
G
ERBB4
SJD_79.3
chr2:
212815402-212815402
A
C
intronic
De novo
-
-
Trost2022
G
ERBB4
AU2168301
chr2:
212775426-212775426
G
A
intronic
De novo
-
-
Trost2022
G
ERBB4
MSSNG00026-003
chr2:
212794176-212794176
T
A
intronic
De novo
-
-
Trost2022
G
ERBB4
1-0450-003
chr2:
212727950-212727950
G
C
intronic
De novo
-
-
Yuen2017
G
ERBB4
5-0101-003
chr2:
212975624-212975624
C
G
intronic
De novo
-
-
Trost2022
G
ERBB4
MSSNG00406-003
chr2:
212977739-212977739
A
G
intronic
De novo
-
-
Trost2022
G
ERBB4
MSSNG00421-007
chr2:
212945593-212945594
GC
G
intronic
De novo
-
-
Trost2022
G
ERBB4
1-0841-003
chr2:
212521371-212521371
C
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
MT_95.3
chr2:
212951916-212951916
A
T
intronic
De novo
-
-
Trost2022
G
ERBB4
AU038203
Complex Event; expand row to view variants
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
2-1091-003
chr2:
212924578-212924578
A
G
intronic
De novo
-
-
Trost2022
G
ERBB4
AU045010
chr2:
213656422-213656422
C
T
intergenic
De novo
-
-
Yuen2017
G
ERBB4
MSSNG00375-003
chr2:
212938270-212938270
T
A
intronic
De novo
-
-
Trost2022
G
ERBB4
1-0677-003
chr2:
212569761-212569761
A
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
1-1204-004
chr2:
212880548-212880548
A
G
intronic
De novo
-
-
Trost2022
G
ERBB4
AU2207301
chr2:
212916186-212916186
T
A
intronic
De novo
-
-
Trost2022
G
ERBB4
MSSNG00421-007
chr2:
213066533-213066533
T
C
intronic
De novo
-
-
Trost2022
G
ERBB4
7-0298-004
chr2:
213094470-213094473
GAGA
G
intronic
De novo
-
-
Trost2022
G
ERBB4
MSSNG00045-005
chr2:
213032249-213032249
C
T
intronic
De novo
-
-
Trost2022
G
ERBB4
REACH000202
chr2:
213043648-213043648
G
GT
intronic
De novo
-
-
Trost2022
G
ERBB4
1-0262-003A
chr2:
213005440-213005440
T
A
intronic
De novo
-
-
Trost2022
G
ERBB4
MT_170.3
chr2:
213025523-213025526
CTCT
C
intronic
De novo
-
-
Trost2022
G
ERBB4
3-0731-001A
chr2:
212990506-212990506
G
A
intronic
De novo
-
-
Trost2022
G
ERBB4
2-0309-004
chr2:
213003536-213003536
A
C
intronic
De novo
-
-
Trost2022
G
ERBB4
1-0763-004
chr2:
213184915-213184917
ACT
GCG
intronic
De novo
-
-
Trost2022
G
ERBB4
5-5038-003
chr2:
213221926-213221926
C
G
intronic
De novo
-
-
Trost2022
G
ERBB4
MSSNG00106-003
chr2:
213173007-213173007
T
G
intronic
De novo
-
-
Trost2022
G
ERBB4
2-0144-004
chr2:
213445572-213445573
TA
T
intergenic
De novo
-
-
Yuen2017
G
ERBB4
5-0005-003
chr2:
213181132-213181132
T
A
intronic
De novo
-
-
Trost2022
G
ERBB4
AU3702307
chr2:
213014423-213014423
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
2-1359-003
chr2:
213168134-213168140
AACAGAC
TTTTTTT
intronic
De novo
-
-
Trost2022
G
ERBB4
4-0062-003
chr2:
213168234-213168235
AC
TT
intronic
De novo
-
-
Trost2022
G
ERBB4
REACH000644
chr2:
213105701-213105701
C
T
intronic
De novo
-
-
Trost2022
G
ERBB4
3-0646-000
chr2:
213115160-213115160
T
C
intronic
De novo
-
-
Trost2022
G
ERBB4
AU2186301
chr2:
213364567-213364567
T
C
intronic
De novo
-
-
Trost2022
G
ERBB4
AU2129301
chr2:
213160059-213160059
G
T
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
MSSNG00023-003
chr2:
213380483-213380483
C
T
intronic
De novo
-
-
Trost2022
G
ERBB4
SJD_3.3
chr2:
213313656-213313656
T
C
intronic
De novo
-
-
Trost2022
G
ERBB4
1-0402-004
chr2:
212824244-212824244
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
2-1552-003
chr2:
213320053-213320054
CT
TTTTAA
intronic
De novo
-
-
Trost2022
G
ERBB4
5-0023-003
chr2:
213290060-213290060
G
A
intronic
De novo
-
-
Trost2022
G
ERBB4
MSSNG00239-003
chr2:
213290060-213290060
G
A
intronic
De novo
-
-
Trost2022
G
ERBB4
1-1084-003
chr2:
213244009-213244009
G
C
intronic
De novo
-
-
Trost2022
G
ERBB4
MSSNG00452-003
chr2:
213287805-213287805
A
G
intronic
De novo
-
-
Trost2022
G
ERBB4
2-1425-004
chr2:
213212426-213212426
T
G
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
2-1737-003
chr2:
213393023-213393023
T
C
intronic
De novo
-
-
Trost2022
G
Yuen2017
G
ERBB4
1-0661-003
chr2:
212561586-212561586
G
A
intronic
De novo
-
-
Yuen2017
G
ERBB4
3-0489-000
chr2:
213391341-213391341
G
A
intronic
De novo
-
-
Trost2022
G
Source Variant Information
?
, -
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
View
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