Variant Results

or

Results for "ARHGAP45"

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

ARHGAP45

2-0320-003

chr19:
1084616-1084616

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

ARHGAP45

11604.p1

chr19:
1079991-1079991

T

C

exonic

De novo

nonsynonymous SNV

NM_001282334
NM_001282335
NM_001258328
NM_012292

c.T482C
c.T1226C
c.T1625C
c.T1577C

p.M161T
p.M409T
p.M542T
p.M526T

4.552

-

Iossifov2014 E
Kosmicki2017 E
Lim2017 E
Sanders2012 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

ARHGAP45

SP0017155

chr19:
1080913-1080913

C

T

exonic

De novo

synonymous SNV

NM_001282334
NM_001282335
NM_001258328
NM_012292

c.C945T
c.C1689T
c.C2088T
c.C2040T

p.P315P
p.P563P
p.P696P
p.P680P

-

Fu2022 E
Trost2022 G
Zhou2022 GE

ARHGAP45

SP0187402

chr19:
1077373-1077373

C

T

UTR5

De novo

-

Trost2022 G

ARHGAP45

14-591

chr19:
1078697-1078697

C

T

intronic

De novo

-

Trost2022 G

ARHGAP45

7-0161-003

chr19:
1080454-1080454

T

C

intronic

De novo

6.896

-

Trost2022 G
Yuen2017 G
Zhou2022 GE

ARHGAP45

SP0011128

chr19:
1077373-1077373

C

T

UTR5

De novo

-

Trost2022 G

ARHGAP45

SP0051545

chr19:
1077373-1077373

C

T

UTR5

De novo

-

Trost2022 G

ARHGAP45

SP0151784

chr19:
1073133-1073133

G

A

intronic

De novo

-

6.173E-5

Trost2022 G

ARHGAP45

SP0152793

chr19:
1077358-1077358

G

A

UTR5

De novo

-

Trost2022 G

ARHGAP45

SP0009922

chr19:
1085982-1085982

G

T

exonic

De novo

stopgain

NM_001282334
NM_001282335
NM_001258328
NM_012292

c.G2293T
c.G3037T
c.G3436T
c.G3388T

p.E765X
p.E1013X
p.E1146X
p.E1130X

39.0

-

Feliciano2019 E
Fu2022 E
Zhou2022 GE

ARHGAP45

11604_p1

chr19:
1079991-1079991

T

C

exonic

De novo

nonsynonymous SNV

NM_001282334
NM_001282335
NM_001258328
NM_012292

c.T482C
c.T1226C
c.T1625C
c.T1577C

p.M161T
p.M409T
p.M542T
p.M526T

4.552

-

Fu2022 E

ARHGAP45

1-0601-003

chr19:
1086257-1086257

C

T

UTR3

De novo

-

Trost2022 G
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
Curation notes	View
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