Variant Results

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Results for "WNT9A"

Variant Events: 19

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

WNT9A

SanDiego_E7C2S

chr1:
228109385-228109385

C

T

exonic

Unknown

nonsynonymous SNV

NM_003395

c.G932A

p.R311H

29.2

Wang2020 T

WNT9A

11042.p1

chr1:
228111953-228111954

GC

G

exonic

Unknown, De novo

frameshift deletion

NM_003395

c.500delG

p.G167fs

-

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T

WNT9A

ACGC_M23679

chr1:
228113107-228113107

C

T

exonic

Unknown

nonsynonymous SNV

NM_003395

c.G209A

p.R70H

29.4

Wang2020 T

WNT9A

13069.p1

chr1:
228116591-228116591

C

G

intronic

De novo

-

-

Turner2016 G

WNT9A

AU2140305

chr1:
228124266-228124266

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

WNT9A

SP0072877

chr1:
228111750-228111750

G

GCCCCCCCC

intronic

De novo

-

-

Fu2022 E

WNT9A

M23679

chr1:
228113107-228113107

C

T

exonic

Maternal

nonsynonymous SNV

NM_003395

c.G209A

p.R70H

29.4

Stessman2017 T

WNT9A

E7C2S

chr1:
228109385-228109385

C

T

exonic

Unknown

nonsynonymous SNV

NM_003395

c.G932A

p.R311H

29.2

Stessman2017 T

WNT9A

SanDiego_J3L5W

chr1:
228113023-228113023

C

A

exonic

Unknown

nonsynonymous SNV

NM_003395

c.G293T

p.R98L

29.0

Wang2020 T

WNT9A

2-1232-003

chr1:
228130723-228130723

G

A

intronic

De novo

-

-

Trost2022 G

WNT9A

ACGC_M8865

chr1:
228112065-228112065

G

A

exonic

Unknown

nonsynonymous SNV

NM_003395

c.C389T

p.S130L

27.2

-

Wang2020 T

WNT9A

3-0178-000

chr1:
228120506-228120506

C

CT

intronic

De novo

-

-

Trost2022 G

WNT9A

AGRE_09C91467

chr1:
228113120-228113120

G

A

exonic

Unknown

nonsynonymous SNV

NM_003395

c.C196T

p.R66W

20.4

Wang2020 T

WNT9A

SP0234628

chr1:
228135601-228135601

C

T

UTR5

De novo

-

-

Trost2022 G

WNT9A

ACGC_M21639

chr1:
228113120-228113120

G

A

exonic

Unknown

nonsynonymous SNV

NM_003395

c.C196T

p.R66W

20.4

Wang2020 T

WNT9A

1-0562-003

chr1:
228134790-228134790

G

A

intronic

De novo

-

-

Trost2022 G

WNT9A

SAGE_362.302

chr1:
228109320-228109320

G

A

exonic

Unknown

nonsynonymous SNV

NM_003395

c.C997T

p.R333W

19.08

-

Wang2020 T

WNT9A

CC1342_201

chr1:
228109286-228109286

C

T

exonic

De novo

nonsynonymous SNV

NM_003395

c.G1031A

p.R344H

11.05

Fu2022 E

WNT9A

SP0051229

chr1:
228111768-228111768

C

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
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