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Results for "ARHGAP10"

Variant Events: 24

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
ARHGAP10     AU061104chr4:
148736455-148736455
CTintronicDe novo--Yuen2017 G
ARHGAP10     7-0082-003chr4:
148834685-148834685
CTintronicDe novo--Yuen2017 G
ARHGAP10     AU2123302chr4:
148677035-148677035
AGintronicDe novo--Yuen2017 G
ARHGAP10     7-0080-003chr4:
148699857-148699857
CTintronicDe novo--Yuen2017 G
ARHGAP10     AU2000304chr4:
148723346-148723346
CAintronicDe novo--Yuen2017 G
ARHGAP10     12498.p1chr4:
148856937-148856937
GCintronicDe novo--Turner2016 G
ARHGAP10     12793.p1chr4:
148986808-148986808
GAintronicDe novo--Turner2016 G
ARHGAP10     AU3051302chr4:
148848153-148848153
GAintronicDe novo--Yuen2017 G
ARHGAP10     SP0001890chr4:
148968201-148968201
AGexonicDe novononsynonymous SNVNM_024605c.A2026Gp.I676V0.0496.0E-4Feliciano2019 E
ARHGAP10     2-1093-005chr4:
148978801-148978801
CTintronicDe novo--Yuen2017 G
ARHGAP10     1572023chr4:
148886268-148886268
ACexonicDe novononsynonymous SNVNM_024605c.A1544Cp.K515T12.83-Satterstrom2020 E
ARHGAP10     AU4079302chr4:
148957631-148957631
GCintronicDe novo--Yuen2017 G
ARHGAP10     2-1127-003chr4:
148666508-148666508
CAintronicDe novo--Yuen2016 G
Yuen2017 G
ARHGAP10     AU3865301chr4:
148779027-148779027
AGintronicDe novo--Yuen2017 G
ARHGAP10     2-1505-004chr4:
148734782-148734782
CTintronicDe novo--Yuen2017 G
ARHGAP10     1-0336-003chr4:
148788806-148788813
AGAGATTGAintronicDe novo--Yuen2017 G
ARHGAP10     1-0487-003chr4:
148783465-148783465
GAintronicDe novo--Yuen2016 G
Yuen2017 G
ARHGAP10     iHART2506chr4:
148768325-148768326
GAGexonicMaternalframeshift deletionNM_024605c.337delAp.I113fs-2.492E-5Ruzzo2019 G
ARHGAP10     13400.p1chr4:
148968134-148968134
GAexonicDe novosynonymous SNVNM_024605c.G1959Ap.G653G3.49-Iossifov2014 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
ARHGAP10     1-0490-003chr4:
148893040-148893040
GAintronicDe novo--Yuen2017 G
ARHGAP10     2-1066-003chr4:
148825666-148825666
TGintronicDe novo--Yuen2017 G
ARHGAP10     1-0901-003chr4:
148841332-148841332
TCintronicDe novo--Yuen2017 G
ARHGAP10     2-1148-004chr4:
148780648-148780648
CTintronicDe novo--Yuen2017 G
ARHGAP10     iHART2542chr4:
148743964-148743964
CTexonicPaternalstopgainNM_024605c.C241Tp.R81X22.38.238E-6Ruzzo2019 G
Source Variant Information

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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 notesView
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