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Results for "ARHGEF12"

Variant Events: 16

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
ARHGEF12     2-1089-004chr11:
120310233-120310233
GAintronicDe novo--Yuen2017 G
ARHGEF12     2-1734-003chr11:
120344556-120344556
CGintronicDe novo--Yuen2017 G
ARHGEF12     AU1860302chr11:
120278541-120278541
CTintronicDe novo--Yuen2017 G
ARHGEF12     1-0556-003chr11:
120260777-120260777
CTintronicDe novo--Yuen2017 G
ARHGEF12     2-1142-003chr11:
120343336-120343336
GTintronicDe novo--Yuen2017 G
ARHGEF12     7-0219-003chr11:
120283228-120283228
GAintronicDe novo--Yuen2017 G
ARHGEF12     1-0923-003chr11:
120332002-120332002
TCintronicDe novo--Yuen2017 G
ARHGEF12     2-1220-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
ARHGEF12     SJD_34chr11:
120291542-120291542
GAexonicPaternalnonsynonymous SNVNM_001198665
NM_015313
c.G223A
c.G280A
p.V75I
p.V94I
33.04.217E-5Toma2013 E
ARHGEF12     2-1629-003chr11:
120256464-120256464
CTintronicDe novo--Yuen2017 G
ARHGEF12     7902-03-002chr11:
120295031-120295033
ATGAintronicDe novo--Satterstrom2020 E
ARHGEF12     AU3846302chr11:
120353321-120353321
GTintronicDe novo--Yuen2017 G
ARHGEF12     SP0124588chr11:
120312855-120312855
ATexonicDe novostopgainNM_001198665
NM_001301084
NM_015313
c.A1189T
c.A937T
c.A1246T
p.K397X
p.K313X
p.K416X
42.0-Antaki2022 GE
Fu2022 E
ARHGEF12     AU3857301chr11:
120283510-120283510
AGintronicDe novo--Yuen2017 G
ARHGEF12     CC1279_202chr11:
120291501-120291501
AGexonicDe novononsynonymous SNVNM_001198665
NM_015313
c.A182G
c.A239G
p.N61S
p.N80S
27.78.352E-6Fu2022 E
ARHGEF12     SP0044893chr11:
120351138-120351138
ACexonicDe novosynonymous SNVNM_001198665
NM_001301084
NM_015313
c.A4179C
c.A3927C
c.A4236C
p.S1393S
p.S1309S
p.S1412S
--Fu2022 E
Source Variant Information

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Source:

Paper alias:

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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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