Variant Results

or

or

Results for "MARCH8"

Variant Events: 21

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

MARCH8

A32

chr10:
45970595-45970595

G

C

intronic

De novo

-

-

Wu2018 G

MARCH8

5-5077-003

chr10:
46016962-46016962

C

T

intronic

De novo

-

-

Trost2022 G

MARCH8

AU076509

chr10:
46005816-46005816

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MARCH8

3-0050-000

chr10:
46028496-46028496

A

T

intronic

De novo

-

-

Trost2022 G

MARCH8

CC1090_202

chr10:
45959689-45959689

G

C

exonic

De novo

nonsynonymous SNV

NM_001002266
NM_001282866
NM_145021

c.C240G
c.C240G
c.C240G

p.C80W
p.C80W
p.C80W

21.3

-

Fu2022 E

MARCH8

2-1772-003

chr10:
46000248-46000248

T

C

intronic

De novo

-

-

Trost2022 G

MARCH8

MSSNG00032-003

chr10:
46010913-46010916

GTGT

G

intronic

De novo

-

-

Trost2022 G

MARCH8

2-1433-003

chr10:
45976923-45976928

TGTGTC

T

intronic

De novo

-

-

Trost2022 G

MARCH8

1-0923-003

chr10:
46102115-46102115

G

C

intergenic

De novo

-

-

Yuen2017 G

MARCH8

2-1433-004

chr10:
45976923-45976928

TGTGTC

T

intronic

De novo

-

-

Trost2022 G

MARCH8

AU4092302

chr10:
46029645-46029645

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MARCH8

7-0059-003

chr10:
46077050-46077051

AC

TA

intronic

De novo

-

-

Trost2022 G

MARCH8

CC1090.202

chr10:
45959689-45959689

G

C

exonic

De novo

nonsynonymous SNV

NM_001002266
NM_001282866
NM_145021

c.C240G
c.C240G
c.C240G

p.C80W
p.C80W
p.C80W

21.3

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

MARCH8

AU3721302

chr10:
45965092-45965092

T

A

intronic

De novo

-

-

Yuen2017 G

MARCH8

AU2237301

chr10:
46067135-46067135

C

A

intronic

De novo

-

-

Trost2022 G

MARCH8

AU2572301

chr10:
46067578-46067578

A

C

intronic

De novo

-

-

Trost2022 G

MARCH8

P6Q4Z_01

chr10:
46039284-46039284

T

A

intronic

De novo

-

-

Trost2022 G

MARCH8

4-0062-003

chr10:
46053956-46053965

CAGCACGGAA

C

intronic

De novo

-

-

Trost2022 G

MARCH8

1-0479-006

chr10:
45964104-45964104

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

MARCH8

111310

chr10:
45958660-45958660

A

G

exonic

nonsynonymous SNV

NM_001282866

c.T1027C

p.S343P

21.1

Woodbury-Smith2022 E

MARCH8

74-0352

chr10:
45982786-45982786

G

A

intronic

De novo

-

-

Michaelson2012 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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