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Results for "MARCH6"

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
MARCH6     2-1313-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
MARCH6     1-0068-003chr5:
10437783-10437783
AGUTR3De novo--Yuen2017 G
MARCH6     20574-32342chr5:
10415740-10415740
CTexonicInheritednonsynonymous SNVNM_001270661
NM_001270660
NM_005885
c.C1792T
c.C1963T
c.C2107T
p.R598C
p.R655C
p.R703C
33.0-Callaghan2019 G
MARCH6     1-0300-003chr5:
10402789-10402789
TAintronicDe novo--Yuen2017 G
MARCH6     AU2787302chr5:
10433953-10433953
TCUTR3De novo--Yuen2017 G
MARCH6     AU4284301chr5:
10415392-10415392
ACintronicDe novo--Yuen2017 G
MARCH6     1-0756-005chr5:
10427709-10427709
CTintronicDe novo--Yuen2017 G
MARCH6     12529.p1chr5:
10379033-10379033
GAintronicDe novo--Turner2016 G
MARCH6     AU3839303chr5:
10409946-10409946
TCintronicDe 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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