Variant Results

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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 GE

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

, -

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	View
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