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Results for "ARMC4"

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
ARMC4     5-0099-003chr10:
28182463-28182463
GCintronicDe novo--Yuen2017 G
ARMC4     AU4186302chr10:
28228367-28228367
GAintronicDe novo--Yuen2017 G
ARMC4     Cukier2014:17342chr10:
28149640-28149640
CTexonicUnknownnonsynonymous SNVNM_001290021
NM_001312689
NM_001290020
NM_018076
c.G1510A
c.G2011A
c.G2935A
c.G2935A
p.V504M
p.V671M
p.V979M
p.V979M
18.637.0E-4Cukier2014 E
ARMC4     12693.p1chr10:
28233793-28233793
GTexonicMosaicsynonymous SNVNM_001290021
NM_001312689
NM_001290020
NM_018076
c.C60A
c.C561A
c.C1485A
c.C1485A
p.G20G
p.G187G
p.G495G
p.G495G
--Dou2017 E
ARMC4     1-0973-003chr10:
28276894-28276894
TAintronicDe novo--Yuen2017 G
ARMC4     2-1434-003chr10:
28058578-28058578
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
ARMC4     11346.p1chr10:
28233146-28233146
CAintronicMosaic-0.0011Dou2017 E
ARMC4     3-0109-000chr10:
28149756-28149756
TAexonicDe novononsynonymous SNVNM_001290021
NM_001312689
NM_001290020
NM_018076
c.A1394T
c.A1895T
c.A2819T
c.A2819T
p.H465L
p.H632L
p.H940L
p.H940L
3.888-Tammimies2015 E
ARMC4     2-1507-003chr10:
28238623-28238623
AGintronicDe 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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