Variant Results

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Results for "VANGL2"

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

VANGL2

2-1398-004

chr1:
160422344-160422344

C

T

intergenic

De novo

-

-

Yuen2017 G

VANGL2

1-0353-003

chr1:
160381124-160381124

C

T

intronic

De novo

-

-

Yuen2017 G

VANGL2

SP0054545

chr1:
160388936-160388936

G

A

exonic

De novo

nonsynonymous SNV

NM_020335

c.G337A

p.A113T

12.69

-

Fu2022 E
Trost2022 G
Zhou2022 GE

VANGL2

1-0479-006

chr1:
160384667-160384672

TCTCCT

AAAAGA

intronic

De novo

-

-

Trost2022 G

VANGL2

13158.p1

chr1:
160388772-160388772

T

TG

intronic

De novo

-

-

Krumm2015 E

VANGL2

REACH000120

chr1:
160378975-160378975

A

G

intronic

De novo

-

-

Trost2022 G

VANGL2

SP0239800

chr1:
160389072-160389072

T

C

exonic

De novo

nonsynonymous SNV

NM_020335

c.T473C

p.I158T

22.4

-

Trost2022 G

VANGL2

1-0990-003

chr1:
160394572-160394572

C

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

VANGL2

1-0458-004

chr1:
160384667-160384672

TCTCCT

AAAAGA

intronic

De novo

-

-

Trost2022 G

VANGL2

1-0488-003

Complex Event; expand row to view variants

De novo

-

-

Trost2022 G
Yuen2017 G

VANGL2

AU060703

chr1:
160411717-160411717

G

C

intergenic

De novo

-

-

Yuen2017 G

VANGL2

SSC03000

chr1:
160393871-160393871

C

T

exonic

De novo

nonsynonymous SNV

NM_020335

c.C1103T

p.T368I

14.85

-

Fu2022 E
Lim2017 E
Trost2022 G

VANGL2

11225.p1

chr1:
160393871-160393871

C

T

exonic

De novo

nonsynonymous SNV

NM_020335

c.C1103T

p.T368I

14.85

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
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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