Variant Results

or

Results for "GRAMD1B"

Variant Events: 32

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

GRAMD1B

MSSNG00022-003

chr11:
123441104-123441104

C

A

intronic

De novo

-

Trost2022 G

GRAMD1B

MSSNG00420-003

chr11:
123450362-123450362

C

T

intronic

De novo

-

Trost2022 G

GRAMD1B

5-5123-004

chr11:
123439297-123439297

G

C

intronic

De novo

-

Trost2022 G

GRAMD1B

7-0397-003

chr11:
123440594-123440594

C

T

intronic

De novo

-

Trost2022 G

GRAMD1B

2-1528-003

chr11:
123421245-123421245

G

A

intronic

De novo

-

Trost2022 G

GRAMD1B

MT_21.3

chr11:
123423916-123423916

G

GA

intronic

De novo

-

Trost2022 G

GRAMD1B

2-1433-004

chr11:
123420835-123420839

CCGTG

GCA

intronic

De novo

-

Trost2022 G

GRAMD1B

2-1433-004

chr11:
123420843-123420843

G

A

intronic

De novo

-

Trost2022 G

GRAMD1B

MSSNG00045-003

chr11:
123489690-123489690

C

T

intronic

De novo

-

Trost2022 G

GRAMD1B

MT_168.3

chr11:
123493131-123493131

C

T

intronic

De novo

-

Trost2022 G

GRAMD1B

2-1798-003

chr11:
123482508-123482508

G

A

intronic

De novo

-

Trost2022 G

GRAMD1B

1-0046-003

chr11:
123461078-123461078

C

G

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

GRAMD1B

1-0262-004A

chr11:
123488559-123488559

C

G

intronic

De novo

-

Trost2022 G

GRAMD1B

1-0844-003

chr11:
123478503-123478503

A

G

intronic

De novo

-

Trost2022 G

GRAMD1B

SSC06432

chr11:
123479238-123479238

G

A

intronic

De novo

5.406

2.0E-4

Trost2022 G

GRAMD1B

10-1129-005

chr11:
123463457-123463457

G

C

intronic

De novo

-

Trost2022 G

GRAMD1B

14502.p1

chr11:
123477359-123477359

G

A

exonic

De novo

nonsynonymous SNV

NM_001286564
NM_020716
NM_001286563

c.G817A
c.G937A
c.G958A

p.G273R
p.G313R
p.G320R

11.51

1.816E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

GRAMD1B

REACH000718

chr11:
123466422-123466422

A

G

intronic

De novo

-

Trost2022 G

GRAMD1B

1-0141-003

chr11:
123458390-123458390

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRAMD1B

SP0034011

chr11:
123493173-123493174

AG

A

intronic

De novo

-

Fu2022 E

GRAMD1B

SP0117917

Complex Event; expand row to view variants

De novo

nonsynonymous SNV, nonframeshift substitution

NM_001286564
NM_020716
NM_001286563
NM_001286564
NM_020716
NM_001286563
NM_001286564
NM_020716
NM_001286563

c.C1123G
c.C1243G
c.C1264G
c.T1122A
c.T1242A
c.T1263A
c.1122_1123AG
c.1242_1243AG
c.1263_1264AG

p.P375A
p.P415A
p.P422A
p.H374Q
p.H414Q
p.H421Q
N/A
N/A
N/A

25.2

-

Fu2022 E
Trost2022 G
Trost2022 G
Zhou2022 GE

GRAMD1B

1-0736-003

chr11:
123463756-123463756

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRAMD1B

36210

chr11:
123477359-123477359

G

A

exonic

De novo

nonsynonymous SNV

NM_001286564
NM_020716
NM_001286563

c.G817A
c.G937A
c.G958A

p.G273R
p.G313R
p.G320R

11.51

1.816E-5

Fu2022 E
Trost2022 G

GRAMD1B

SP0125708

chr11:
123479435-123479435

G

A

exonic

De novo

nonsynonymous SNV

NM_001286564
NM_020716
NM_001286563

c.G1033A
c.G1153A
c.G1174A

p.V345M
p.V385M
p.V392M

32.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

GRAMD1B

2-0223-004

chr11:
123470597-123470597

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

GRAMD1B

2-0223-004

chr11:
123471234-123471234

G

C

exonic

De novo

nonsynonymous SNV

NM_001286564
NM_020716
NM_001286563

c.G479C
c.G599C
c.G620C

p.W160S
p.W200S
p.W207S

22.5

-

Trost2022 G
Yuen2015 G
Yuen2017 G
Zhou2022 GE

GRAMD1B

13070.p1

chr11:
123479238-123479238

G

A

intronic

De novo

5.406

2.0E-4

Satterstrom2020 E
Zhou2022 GE

GRAMD1B

2-1337-003

chr11:
123475397-123475397

G

T

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

GRAMD1B

2-1433-004

chr11:
123420827-123420827

A

C

intronic

De novo

-

Trost2022 G

GRAMD1B

2-1433-004

chr11:
123420830-123420831

CA

G

intronic

De novo

-

Trost2022 G

GRAMD1B

MSSNG00410-003

chr11:
123402988-123402988

G

A

intronic

De novo

-

Trost2022 G

GRAMD1B

2-1433-004

chr11:
123420822-123420822

A

G

intronic

De novo

-

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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