Variant Results

or

Results for "GALM"

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

GALM

11271.p1

chr2:
38958886-38958886

T

C

exonic

Mosaic, De novo

synonymous SNV

NM_138801

c.T786C

p.H262H

-

1.661E-5

Dou2017 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

GALM

AU3885304

chr2:
38899787-38899787

T

G

intronic

De novo

-

Yuen2017 G

GALM

REACH000540

chr2:
38895409-38895409

G

C

intronic

De novo

-

Trost2022 G

GALM

1-0591-003

chr2:
38926053-38926070

GTTATTATTATTATTATT

GTTATTATTATTATT

intronic

De novo

-

Yuen2017 G

GALM

1-0507-003

chr2:
38920033-38920033

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

GALM

MSSNG00334-004

chr2:
38953817-38953817

C

T

intronic

De novo

-

Trost2022 G

GALM

Cukier2014:17342

chr2:
38956836-38956836

C

G

exonic

Unknown

nonsynonymous SNV

NM_138801

c.C773G

p.A258G

24.7

3.0E-4

Cukier2014 E

GALM

10-1104-003

chr2:
38921206-38921206

C

CCCAG

intronic

De novo

-

Trost2022 G

GALM

1-0845-003

chr2:
38903783-38903783

T

G

intronic

De novo

-

Trost2022 G

GALM

MSSNG00033-004

chr2:
38948774-38948774

G

A

intronic

De novo

-

Trost2022 G

GALM

5-5132-003

chr2:
38924810-38924810

G

A

intronic

De novo

-

Trost2022 G

GALM

SSC00057

chr2:
38958886-38958886

T

C

exonic

De novo

synonymous SNV

NM_138801

c.T786C

p.H262H

-

1.661E-5

Fu2022 E
Lim2017 E
Trost2022 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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