Variant Results

or

Results for "ARHGEF33"

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

ARHGEF33

AU4246304

chr2:
39157441-39157441

A

G

intronic

De novo

-

Yuen2017 G

ARHGEF33

200675594@1082034690

chr2:
39184185-39184185

A

G

exonic

De novo

nonsynonymous SNV

NM_001145451

c.A1367G

p.K456R

13.43

-

Satterstrom2020 E

ARHGEF33

AU2711303

chr2:
39153966-39153966

C

T

intronic

De novo

-

Yuen2017 G

ARHGEF33

1-0518-003

chr2:
39157782-39157782

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

ARHGEF33

200675594_1082034690

chr2:
39184185-39184185

A

G

exonic

De novo

nonsynonymous SNV

NM_001145451

c.A1367G

p.K456R

13.43

-

Fu2022 E

ARHGEF33

1-0347-003

chr2:
39170737-39170737

G

T

intronic

De novo

-

Yuen2017 G

ARHGEF33

11085.p1

chr2:
39198970-39198970

A

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

ARHGEF33

Chen2017:91

chr2:
39184185-39184185

A

G

exonic

De novo

nonsynonymous SNV

NM_001145451

c.A1367G

p.K456R

13.43

-

Chen2017 E

ARHGEF33

11411.p1

chr2:
39185135-39185135

C

T

intronic

Mosaic

-

Dou2017 E

ARHGEF33

GM183602

chr2:
39198959-39198960

TG

T

intronic

De novo

-

Fu2022 E

ARHGEF33

12321.p1

chr2:
39148582-39148582

G

T

intronic

De novo

-

Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

ARHGEF33

AU003406

chr2:
39207526-39207526

C

T

intergenic

De novo

-

Yuen2017 G

ARHGEF33

SP0053549

chr2:
39164610-39164610

G

A

exonic

De novo

nonsynonymous SNV

NM_001145451

c.G700A

p.V234I

9.229

-

Fu2022 E

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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