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Results for "GRIK5"

Variant Events: 9

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
GRIK5     11301.p1chr19:
42563657-42563657
CAexonicDe novosynonymous SNVNM_001301030
NM_002088
c.G531T
c.G531T
p.L177L
p.L177L
--Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Sanders2012 E
Satterstrom2020 E
Wilfert2021 G
GRIK5     AU220Achr19:
42507510-42507510
TCexonicDe novononsynonymous SNVNM_001301030
NM_002088
c.A2488G
c.A2488G
p.T830A
p.T830A
15.79-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
GRIK5     13628.p1chr19:
42546852-42546852
CTexonicDe novononsynonymous SNVNM_001301030
NM_002088
c.G1325A
c.G1325A
p.R442H
p.R442H
26.28.51E-6Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
GRIK5     2-1207-003chr19:
42565190-42565190
CCTTTAintronicDe novo--Yuen2016 G
GRIK5     21758-34760chr19:
42546718-42546718
CTexonicnonsynonymous SNVNM_001301030
NM_002088
c.G1459A
c.G1459A
p.E487K
p.E487K
36.0-Callaghan2019 G
GRIK5     SSC08289chr19:
42546852-42546852
CTexonicDe novononsynonymous SNVNM_001301030
NM_002088
c.G1325A
c.G1325A
p.R442H
p.R442H
26.28.51E-6Lim2017 E
GRIK5     928-19074chr19:
42525615-42525615
TCexonicInheritednonsynonymous SNVNM_001301030
NM_002088
c.A1709G
c.A1709G
p.Y570C
p.Y570C
19.7-Callaghan2019 G
GRIK5     SSC11869chr19:
42546789-42546789
CTexonicDe novononsynonymous SNVNM_001301030
NM_002088
c.G1388A
c.G1388A
p.R463H
p.R463H
27.02.54E-5Lim2017 E
GRIK5     14452.p1chr19:
42546789-42546789
CTexonicDe novononsynonymous SNVNM_001301030
NM_002088
c.G1388A
c.G1388A
p.R463H
p.R463H
27.02.54E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Source Variant Information

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Source:

Paper alias:

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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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