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Results for "MARCH6"
Variant Events: 12
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
151847
chr5:
10394865-10394865
A
T
exonic
De novo
nonsynonymous SNV
NM_001270661
NM_001270660
NM_005885
c.A514T
c.A685T
c.A829T
p.M172L
p.M229L
p.M277L
9.692
-
Fu2022
E
MARCH6
1-0068-003
chr5:
10437783-10437783
A
G
UTR3
De novo
-
-
Yuen2017
G
MARCH6
20574-32342
chr5:
10415740-10415740
C
T
exonic
Inherited
nonsynonymous SNV
NM_001270661
NM_001270660
NM_005885
c.C1792T
c.C1963T
c.C2107T
p.R598C
p.R655C
p.R703C
33.0
-
Callaghan2019
G
MARCH6
AU2787302
chr5:
10433953-10433953
T
C
UTR3
De novo
-
-
Yuen2017
G
MARCH6
SP0037338
chr5:
10377927-10377927
C
T
exonic
nonsynonymous SNV
NM_001270660
NM_005885
c.C37T
c.C37T
p.R13W
p.R13W
31.0
-
Antaki2022
G
E
MARCH6
AU4284301
chr5:
10415392-10415392
A
C
intronic
De novo
-
-
Yuen2017
G
MARCH6
12529.p1
chr5:
10379033-10379033
G
A
intronic
De novo
-
-
Turner2016
G
MARCH6
AU3839303
chr5:
10409946-10409946
T
C
intronic
De novo
-
-
Yuen2017
G
MARCH6
2-1313-003
Complex Event; expand row to view variants
De novo
-
-
Yuen2016
G
Yuen2017
G
MARCH6
SMHC00819sfd1
chr5:
10402532-10402532
C
T
exonic
De novo
nonsynonymous SNV
NM_001270661
NM_001270660
NM_005885
c.C775T
c.C946T
c.C1090T
p.R259C
p.R316C
p.R364C
27.4
-
Yuan2023
E
MARCH6
1-0300-003
chr5:
10402789-10402789
T
A
intronic
De novo
-
-
Yuen2017
G
MARCH6
1-0756-005
chr5:
10427709-10427709
C
T
intronic
De 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 notes
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