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Results for "STK25"

Variant Events: 7

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
STK25     A15chr2:
242465503-242465503
CAintergenicDe novo--Wu2018 G
STK25     iHART2751chr2:
242437655-242437655
GAexonicMaternalstopgainNM_001271978
NM_001271979
NM_001271980
NM_001282305
NM_001282307
NM_001282308
NM_001271977
NM_001282306
NM_006374
c.C1027T
c.C796T
c.C796T
c.C745T
c.C745T
c.C745T
c.C1027T
c.C805T
c.C1027T
p.Q343X
p.Q266X
p.Q266X
p.Q249X
p.Q249X
p.Q249X
p.Q343X
p.Q269X
p.Q343X
37.0-Ruzzo2019 G
STK25     AU3724301chr2:
242436525-242436525
CGintronicDe novo--Yuen2017 G
STK25     DEASD_0237_002chr2:
242435818-242435818
CTexonicDe novosynonymous SNVNM_001271978
NM_001271979
NM_001271980
NM_001282305
NM_001282307
NM_001282308
NM_001271977
NM_001282306
NM_006374
c.G1236A
c.G1005A
c.G1005A
c.G954A
c.G954A
c.G954A
c.G1236A
c.G1014A
c.G1236A
p.V412V
p.V335V
p.V335V
p.V318V
p.V318V
p.V318V
p.V412V
p.V338V
p.V412V
--DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
STK25     PN400297chr2:
242443465-242443465
CCGGCAintronicUnknown--Leblond2019 E
STK25     7-0103-003chr2:
242438395-242438395
GAintronicDe novo--Yuen2017 G
STK25     PN400325chr2:
242443465-242443465
CCGGCAintronicUnknown--Leblond2019 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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