Variant Results

or

Results for "GORAB"

Variant Events: 13

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

GORAB

mAGRE5669

chr1:
170501316-170501316

C

CG

exonic

Maternal

frameshift insertion

NM_001146039
NM_152281

c.28dupG
c.28dupG

p.V9fs
p.V9fs

-

3.301E-5

Cirnigliaro2023 G

GORAB

1-0652-004

chr1:
170598540-170598540

G

A

intergenic

De novo

-

Yuen2017 G

GORAB

AU039305

chr1:
170597408-170597408

T

A

intergenic

De novo

-

Yuen2017 G

GORAB

3-0175-000

chr1:
170509324-170509324

G

T

intronic

De novo

-

Trost2022 G

GORAB

1-0458-003

chr1:
170598540-170598540

G

A

intergenic

De novo

-

Yuen2017 G

GORAB

4-0108-003

chr1:
170521641-170521641

A

G

UTR3

De novo

-

Trost2022 G

GORAB

SP0011746

chr1:
170513949-170513949

C

T

exonic

De novo

nonsynonymous SNV

NM_001146039
NM_152281

c.C700T
c.C700T

p.R234W
p.R234W

16.35

3.0E-4

Trost2022 G

GORAB

1-0329-004

chr1:
170598540-170598540

G

A

intergenic

De novo

-

Yuen2017 G

GORAB

TRE_404

chr1:
170513853-170513853

A

G

exonic

De novo

nonsynonymous SNV

NM_001146039
NM_152281

c.A604G
c.A604G

p.R202G
p.R202G

17.58

8.239E-6

Fu2022 E

GORAB

2-0503-004

chr1:
170598645-170598645

A

G

intergenic

De novo

-

Yuen2017 G

GORAB

2-1506-003

chr1:
170557328-170557328

G

A

intergenic

De novo

-

Yuen2017 G

GORAB

DEASD_0124_001

chr1:
170508470-170508470

C

T

exonic

De novo

nonsynonymous SNV

NM_001146039
NM_152281

c.C256T
c.C256T

p.L86F
p.L86F

17.22

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

GORAB

1-0806-003

chr1:
170506423-170506423

G

A

intronic

De novo

-

Trost2022 G
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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