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Results for "GRIN2A"

Variant Events: 45

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
GRIN2A     2-1408-003chr16:
10094263-10094263
AGintronicDe novo--Yuen2017 G
GRIN2A     2-0278-003chr16:
10384104-10384104
CAintergenicDe novo--Yuen2017 G
GRIN2A     AU4129303chr16:
10447085-10447085
CCAGintergenicDe novo--Yuen2017 G
GRIN2A     12795.p1chr16:
10414080-10414080
CTintergenicDe novo--Turner2016 G
GRIN2A     1-0025-006chr16:
10391096-10391096
GAintergenicDe novo--Yuen2017 G
GRIN2A     1-0059-003chr16:
10001135-10001135
TCintronicDe novo--Yuen2017 G
GRIN2A     1-0025-006chr16:
9995103-9995103
CTintronicDe novo--Yuen2017 G
GRIN2A     AU034904chr16:
10153216-10153216
TCintronicDe novo--Yuen2017 G
GRIN2A     1-0244-003chr16:
9974800-9974800
GCintronicDe novo--Yuen2016 G
Yuen2017 G
GRIN2A     1-0595-004chr16:
9935745-9935745
GTintronicDe novo--Yuen2017 G
GRIN2A     AU051503chr16:
10087271-10087271
AGintronicDe novo--Yuen2017 G
GRIN2A     Stessman2017:ASD-1651chr16:
9934602-9934602
CTexonicUnknownnonsynonymous SNVNM_001134407
NM_001134408
NM_000833
c.G1553A
c.G1553A
c.G1553A
p.R518H
p.R518H
p.R518H
32.0-Stessman2017 T
GRIN2A     AU051503chr16:
10331473-10331473
CTintergenicDe novo--Yuen2017 G
GRIN2A     193182chr16:
9862731-9862731
CTexonicUnknownnonsynonymous SNVNM_001134407
NM_001134408
NM_000833
c.G2572A
c.G2572A
c.G2572A
p.G858R
p.G858R
p.G858R
22.8-Stessman2017 T
GRIN2A     D’Gama2015:5297chr16:
9858751-9858751
CTexonicUnknownnonsynonymous SNVNM_001134407
NM_001134408
NM_000833
c.G2650A
c.G2650A
c.G2650A
p.D884N
p.D884N
p.D884N
17.012.472E-5D’Gama2015 T
GRIN2A     1-0125-003chr16:
10316209-10316209
CGintergenicDe novo--Yuen2017 G
GRIN2A     AU3794301chr16:
10167954-10167954
TCintronicDe novo--Yuen2017 G
GRIN2A     AU003403chr16:
10347899-10347904
ACCCCCACCCCintergenicDe novo--Yuen2017 G
GRIN2A     2-1350-003chr16:
10371740-10371740
GAintergenicDe novo--Yuen2017 G
GRIN2A     Lee2020:34chr16:
9858342-9858342
GCexonicnonsynonymous SNVNM_001134407
NM_001134408
NM_000833
c.C3059G
c.C3059G
c.C3059G
p.S1020C
p.S1020C
p.S1020C
17.83-Lee2020 T
GRIN2A     1-0224-004chr16:
10086098-10086098
TAintronicDe novo--Yuen2017 G
GRIN2A     1-0965-003chr16:
10180082-10180082
GCintronicDe novo--Yuen2017 G
GRIN2A     AU3866301chr16:
10096408-10096408
GTintronicDe novo--Yuen2017 G
GRIN2A     323894chr16:
10273854-10273854
CTsplicingInheritedsplicing18.1-Stessman2017 T
GRIN2A     AU056604chr16:
9934267-9934267
CTintronicDe novo--Yuen2017 G
GRIN2A     1-0629-003chr16:
10198521-10198521
CTintronicDe novo--Yuen2017 G
GRIN2A     2-1506-003chr16:
10281781-10281781
GCintergenicDe novo--Yuen2017 G
GRIN2A     AU4410302chr16:
9935333-9935333
GCintronicDe novo--Yuen2017 G
GRIN2A     AU4410302chr16:
9993559-9993559
GTintronicDe novo--Yuen2017 G
GRIN2A     1-0454-003chr16:
10272049-10272049
CTintronicDe novo--Yuen2016 G
Yuen2017 G
GRIN2A     1-0259-003chr16:
10018551-10018551
GAintronicDe novo--Yuen2017 G
GRIN2A     2-0704-003chr16:
10476809-10476809
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
GRIN2A     Yin2020:031chr16:
10031919-10031919
CAexonicnonsynonymous SNVNM_001134407
NM_001134408
NM_000833
c.G904T
c.G904T
c.G904T
p.A302S
p.A302S
p.A302S
18.94-Yin2020 T
GRIN2A     AU028305chr16:
10299587-10299587
GAintergenicDe novo--Yuen2017 G
GRIN2A     Yin2020:113chr16:
10274241-10274241
GTexonicnonsynonymous SNVNM_001134407
NM_001134408
NM_000833
c.C28A
c.C28A
c.C28A
p.L10M
p.L10M
p.L10M
17.46-Yin2020 T
GRIN2A     217-14116-2080 Complex Event; expand row to view variants  Unknownnonsynonymous SNVNM_001134407
NM_000833
NM_001134407
NM_000833
c.C4354A
c.C4354A
c.C4354T
c.C4354T
p.R1452S
p.R1452S
p.R1452C
p.R1452C
20.71.652E-5Stessman2017 T
Stessman2017 T
GRIN2A     AU065807chr16:
9863252-9863252
CTintronicDe novo--Yuen2017 G
GRIN2A     AU4212303chr16:
10246395-10246395
CTintronicDe novo--Yuen2017 G
GRIN2A     Yin2020:090chr16:
10274241-10274241
GTexonicnonsynonymous SNVNM_001134407
NM_001134408
NM_000833
c.C28A
c.C28A
c.C28A
p.L10M
p.L10M
p.L10M
17.46-Yin2020 T
GRIN2A     M17580chr16:
9943721-9943721
CAexonicUnknownnonsynonymous SNVNM_001134407
NM_001134408
NM_000833
c.G1220T
c.G1220T
c.G1220T
p.S407I
p.S407I
p.S407I
28.4-Stessman2017 T
GRIN2A     1-0627-003chr16:
10180589-10180589
TGintronicDe novo--Yuen2017 G
GRIN2A     1-0668-003chr16:
9937034-9937034
TCintronicDe novo--Yuen2017 G
GRIN2A     AU3861302chr16:
10102200-10102200
GAintronicDe novo--Yuen2017 G
GRIN2A     AU1542303chr16:
10301259-10301259
GAintergenicDe novo--Yuen2017 G
GRIN2A     2-0171-003chr16:
10222609-10222609
ACintronicDe novo--Yuen2017 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 notesView
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