Variant Results

or

Results for "VARS"

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

VARS

AU066104

chr6:
31762645-31762645

G

A

exonic

De novo

nonsynonymous SNV

NM_006295

c.C350T

p.P117L

18.88

-

Yuen2017 G
Zhou2022 GE

VARS

SP0113184

chr6:
31753379-31753379

G

T

exonic

De novo

nonsynonymous SNV

NM_006295

c.C1232A

p.A411D

12.03

1.039E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

VARS

11084.p1

chr6:
31749930-31749930

C

G

exonic

Mosaic

synonymous SNV

NM_006295

c.G2175C

p.L725L

8.547

-

Krupp2017 E

VARS

SP0049520

chr6:
31759456-31759456

G

T

exonic

De novo

nonsynonymous SNV

NM_006295

c.C1031A

p.P344H

27.0

-

Fu2022 E
Zhou2022 GE

VARS

UK10K_SKUSE5208512

chr6:
31747474-31747474

C

A

exonic

De novo

nonsynonymous SNV

NM_006295

c.G3199T

p.V1067L

9.468

-

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

VARS

NDAR_INVYH284TCH_wes1

chr6:
31760609-31760609

G

A

exonic

De novo

nonsynonymous SNV

NM_006295

c.C586T

p.R196W

16.85

2.477E-5

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

VARS

MSSNG00020-004

chr6:
31753388-31753388

C

G

exonic

De novo

nonsynonymous SNV

NM_006295

c.G1223C

p.G408A

27.1

-

Trost2022 G

VARS

80001104736

chr6:
31750028-31750028

G

A

intronic

De novo

-

8.528E-6

Satterstrom2020 E
Trost2022 G

VARS

SP0012773

chr6:
31747950-31747950

T

C

intronic

De novo

-

Fu2022 E
Trost2022 G

VARS

14574.p1

chr6:
31746848-31746848

G

A

exonic

De novo

stopgain

NM_006295

c.C3622T

p.R1208X

43.0

9.022E-6

Turner2017 G
Wilfert2021 G
Zhou2022 GE

VARS

SP0061943

chr6:
31747832-31747832

C

T

exonic

De novo

synonymous SNV

NM_006295

c.G3024A

p.P1008P

-

2.477E-5

Trost2022 G
Zhou2022 GE

VARS

MSSNG00062-003

chr6:
31750174-31750174

C

T

exonic

De novo

nonsynonymous SNV

NM_006295

c.G2038A

p.V680I

19.9

-

Trost2022 G
Zhou2022 GE

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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