Variant Results

or

Results for "GAK"

Variant Events: 33

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

GAK

1-0898-003

chr4:
881932-881932

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GAK

3-0456-000B

chr4:
878161-878161

C

T

intronic

De novo

-

Yuen2017 G

GAK

08C77007

chr4:
925905-925905

T

C

exonic

De novo

nonsynonymous SNV

NM_001286833
NM_005255

c.A71G
c.A71G

p.D24G
p.D24G

23.7

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

GAK

7-0331-003

chr4:
881118-881118

T

C

intronic

De novo

-

Trost2022 G

GAK

7-0331-003

chr4:
881121-881121

T

G

intronic

De novo

-

Trost2022 G

GAK

4-0095-003

chr4:
859217-859217

T

A

intronic

De novo

-

Trost2022 G

GAK

1-0188-003

chr4:
861247-861247

C

CT

intronic

De novo

-

Trost2022 G

GAK

5-5030-003

chr4:
843121-843121

G

A

UTR3

De novo

-

Trost2022 G

GAK

SP0046378

chr4:
843654-843654

A

G

intronic

De novo

-

Fu2022 E
Trost2022 G

GAK

REACH000767

chr4:
902375-902375

G

A

intronic

De novo

-

Trost2022 G

GAK

SP0122732

chr4:
884342-884342

G

A

exonic

De novo

synonymous SNV

NM_001286833
NM_005255

c.C765T
c.C1059T

p.P255P
p.P353P

-

1.937E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

GAK

MSSNG00040-004

chr4:
904978-904978

C

T

intronic

De novo

-

Trost2022 G

GAK

5-5126-003

chr4:
901326-901326

C

A

intronic

De novo

-

Trost2022 G

GAK

SP0037535

chr4:
884295-884295

G

A

intronic

De novo

-

2.231E-5

Fu2022 E

GAK

7-0335-003

chr4:
901762-901762

G

A

intronic

De novo

-

Trost2022 G

GAK

2-0110-003

chr4:
888151-888151

A

G

intronic

De novo

-

Trost2022 G

GAK

1-0565-003

chr4:
918355-918355

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GAK

5-5040-003

chr4:
898004-898004

T

G

intronic

De novo

-

Trost2022 G

GAK

SP0035607

chr4:
845573-845573

G

A

exonic

De novo

nonsynonymous SNV

NM_001286833
NM_005255

c.C3179T
c.C3473T

p.A1060V
p.A1158V

13.59

8.539E-6

Fu2022 E
Trost2022 G
Zhou2022 GE

GAK

SP0233379

chr4:
882724-882724

G

A

exonic

De novo

synonymous SNV

NM_001286833
NM_005255

c.C822T
c.C1116T

p.G274G
p.G372G

-

9.729E-6

Trost2022 G

GAK

10C102470

chr4:
898481-898481

G

A

exonic

De novo

nonsynonymous SNV

NM_001286833
NM_005255

c.C232T
c.C469T

p.R78C
p.R157C

13.32

4.18E-5

DeRubeis2014 E
Kosmicki2017 E
Neale2012 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

GAK

SP0112547

chr4:
871479-871479

C

T

exonic

De novo

nonsynonymous SNV

NM_001286833
NM_005255

c.G1486A
c.G1780A

p.G496S
p.G594S

32.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

GAK

2-0110-003

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

GAK

1886-23674

chr4:
860151-860151

C

T

splicing

Inherited

splicing

15.72

-

Callaghan2019 G

GAK

1-0139-003

chr4:
886052-886052

G

A

intronic

De novo

-

Yuen2017 G

GAK

SSC05666

chr4:
887229-887229

A

C

exonic

De novo

nonsynonymous SNV

NM_001286833
NM_005255

c.T632G
c.T926G

p.V211G
p.V309G

18.42

-

Fu2022 E

GAK

03HI2710A

chr4:
884387-884387

G

A

exonic

De novo

synonymous SNV

NM_001286833
NM_005255

c.C720T
c.C1014T

p.Y240Y
p.Y338Y

-

6.022E-5

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

GAK

ASC_11482-1

chr4:
887694-887694

T

C

exonic

De novo

nonsynonymous SNV

NM_005255

c.A845G

p.D282G

18.54

-

Fu2022 E

GAK

AU066404

chr4:
903522-903522

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

GAK

G01_GEA514HI

chr4:
861260-861261

AC

A

intronic

De novo

-

Fu2022 E

GAK

SA1807008_31

chr4:
845635-845635

C

T

exonic

De novo

synonymous SNV

NM_001286833
NM_005255

c.G3117A
c.G3411A

p.P1039P
p.P1137P

1.148

5.09E-5

Fu2022 E

GAK

11798.p1

chr4:
843749-843749

G

A

exonic

synonymous SNV

NM_001286833
NM_005255

c.C3471T
c.C3765T

p.A1157A
p.A1255A

1.561

2.0E-4

Zhou2022 GE

GAK

3-0456-000

chr4:
878161-878161

C

T

intronic

De novo

-

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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