Variant Results

or

or

Results for "ARHGEF9"

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

ARHGEF9

B0772

chrX:
62898438-62898438

C

T

exonic

Maternal

stopgain

NM_001173479
NM_001173480
NM_015185

c.G417A
c.G270A
c.G576A

p.W139X
p.W90X
p.W192X

46.0

-

Xiong2019 ET

ARHGEF9

B0543

chrX:
62917056-62917056

A

T

exonic

Maternal

stopgain

NM_001173479
NM_001173480
NM_015185

c.T351A
c.T204A
c.T510A

p.Y117X
p.Y68X
p.Y170X

40.0

-

Xiong2019 ET

ARHGEF9

1-0923-003

chrX:
62909684-62909684

G

C

intronic

De novo

-

-

Yuen2017 G

ARHGEF9

DEASD_0113_001

chrX:
62885898-62885898

C

A

splicing

De novo

splicing

17.36

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ARHGEF9

Chen2021:35

chrX:
62917056-62917056

A

T

exonic

Maternal

stopgain

NM_001173479
NM_001173480
NM_015185

c.T351A
c.T204A
c.T510A

p.Y117X
p.Y68X
p.Y170X

40.0

-

Chen2021 GET

ARHGEF9

Chen2021:34

chrX:
62898438-62898438

C

T

exonic

Maternal

stopgain

NM_001173479
NM_001173480
NM_015185

c.G417A
c.G270A
c.G576A

p.W139X
p.W90X
p.W192X

46.0

-

Chen2021 GET

ARHGEF9

Mahjani2021:123

chrX:
62893941-62893941

G

A

exonic

stopgain

NM_001173479
NM_001173480
NM_015185

c.C742T
c.C595T
c.C901T

p.Q248X
p.Q199X
p.Q301X

47.0

-

Mahjani2021 E

ARHGEF9

3C579

chrX:
62926208-62926208

C

T

exonic

De novo

nonsynonymous SNV

NM_001173479
NM_001173480
NM_015185

c.G152A
c.G5A
c.G311A

p.R51Q
p.R2Q
p.R104Q

35.0

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

ARHGEF9

SP0189936

chrX:
62858091-62858091

T

C

splicing

splicing

17.79

-

Zhou2022 GE

ARHGEF9

SP0057144

chrX:
62898273-62898273

G

T

exonic

stopgain

NM_001173479
NM_001173480
NM_015185

c.C582A
c.C435A
c.C741A

p.C194X
p.C145X
p.C247X

47.0

-

Zhou2022 GE

ARHGEF9

SP0101625

chrX:
62893918-62893918

C

A

exonic

nonsynonymous SNV

NM_001173479
NM_001173480
NM_015185

c.G765T
c.G618T
c.G924T

p.E255D
p.E206D
p.E308D

33.0

-

Zhou2022 GE

ARHGEF9

REACH000387

chrX:
62898332-62898332

G

A

exonic

stopgain

NM_001173479
NM_001173480
NM_015185

c.C523T
c.C376T
c.C682T

p.Q175X
p.Q126X
p.Q228X

47.0

-

Zhou2022 GE

ARHGEF9

DEASD_1023_001

chrX:
62944463-62944463

C

T

exonic

De novo

stopgain

NM_015185

c.G138A

p.W46X

40.0

-

Satterstrom2020 E
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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