Variant Results

or

or

Results for "GMEB1"

Variant Events: 14

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

GMEB1

MSSNG00017-004

chr1:
29037058-29037058

C

T

exonic

De novo

nonsynonymous SNV

NM_006582
NM_024482

c.C925T
c.C895T

p.H309Y
p.H299Y

16.36

-

Trost2022 G

GMEB1

1-1133-003

chr1:
29033780-29033780

C

T

intronic

De novo

-

-

Trost2022 G

GMEB1

AU3918301

chr1:
29027157-29027157

A

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GMEB1

SSC11965

chr1:
29016661-29016661

A

G

exonic

De novo

synonymous SNV

NM_006582
NM_024482

c.A204G
c.A174G

p.V68V
p.V58V

-

-

Fu2022 E
Lim2017 E
Trost2022 G

GMEB1

MT_68.3

chr1:
29037996-29037996

C

T

intronic

De novo

-

-

Trost2022 G

GMEB1

7-0253-005

chr1:
29024156-29024156

C

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GMEB1

MSSNG00356-003

chr1:
29033199-29033199

C

T

intronic

De novo

-

-

Trost2022 G

GMEB1

1-0303-003

chr1:
29009001-29009001

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GMEB1

AU3397302

chr1:
29050855-29050855

C

A

intergenic

De novo

-

-

Yuen2017 G

GMEB1

AU4015302

chr1:
29027298-29027298

A

G

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GMEB1

14465.p1

chr1:
29016661-29016661

A

G

exonic

De novo

synonymous SNV

NM_006582
NM_024482

c.A204G
c.A174G

p.V68V
p.V58V

-

-

Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

GMEB1

AU024606

chr1:
29058410-29058410

T

C

intergenic

De novo

-

-

Yuen2017 G

GMEB1

2-1252-003

chr1:
29013467-29013467

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GMEB1

AU3702307

chr1:
29017497-29017497

A

T

intronic

De novo

-

-

Trost2022 G
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	View
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