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Results for "MARK3"

Variant Events: 8

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
MARK3     DEASD_1010_001chr14:
103852349-103852349
GCUTR5De novo--Satterstrom2020 E
MARK3     AU056804chr14:
103963415-103963415
GTintronicDe novo--Yuen2017 G
MARK3     SSC03016chr14:
103969422-103969422
CTexonicDe novononsynonymous SNVNM_001128920
NM_001128921
NM_002376
NM_001128919
NM_001128918
c.C2000T
c.C1838T
c.C2048T
c.C2093T
c.C2120T
p.A667V
p.A613V
p.A683V
p.A698V
p.A707V
10.111.656E-5Lim2017 E
MARK3     12795.p1chr14:
103968646-103968646
GAintronicDe novo--Turner2016 G
MARK3     AU3875301chr14:
103853433-103853433
GAintronicDe novo--Yuen2017 G
MARK3     2-1734-003chr14:
103966573-103966573
GAintronicDe novo--Yuen2017 G
MARK3     A16chr14:
103958429-103958429
CTintronicDe novo--Wu2018 G
MARK3     11393.p1chr14:
103969422-103969422
CTexonicDe novononsynonymous SNVNM_001128920
NM_001128921
NM_002376
NM_001128919
NM_001128918
c.C2000T
c.C1838T
c.C2048T
c.C2093T
c.C2120T
p.A667V
p.A613V
p.A683V
p.A698V
p.A707V
10.111.656E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 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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