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Results for "GAK"

Variant Events: 10

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
GAK     1886-23674chr4:
860151-860151
CTsplicingInheritedsplicing15.72-Callaghan2019 G
GAK     1-0139-003chr4:
886052-886052
GAintronicDe novo--Yuen2017 G
GAK     1-0898-003chr4:
881932-881932
CTintronicDe novo--Yuen2017 G
GAK     AU066404chr4:
903522-903522
CTintronicDe novo--Yuen2017 G
GAK     3-0456-000Bchr4:
878161-878161
CTintronicDe novo--Yuen2017 G
GAK     08C77007chr4:
925905-925905
TCexonicDe novononsynonymous SNVNM_001286833
NM_005255
c.A71G
c.A71G
p.D24G
p.D24G
23.7-Satterstrom2020 E
GAK     3-0456-000chr4:
878161-878161
CTintronicDe novo--Yuen2017 G
GAK     1-0565-003chr4:
918355-918355
CTintronicDe novo--Yuen2017 G
GAK     03HI2710Achr4:
884387-884387
GAexonicDe novosynonymous SNVNM_001286833
NM_005255
c.C720T
c.C1014T
p.Y240Y
p.Y338Y
-6.022E-5Satterstrom2020 E
GAK     10C102470chr4:
898481-898481
GAexonicDe novononsynonymous SNVNM_001286833
NM_005255
c.C232T
c.C469T
p.R78C
p.R157C
13.324.18E-5DeRubeis2014 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
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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