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Results for "ARHGEF7"

Variant Events: 14

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
ARHGEF7     2-0215-003chr13:
111836231-111836231
GGTCTCCintronicDe novo--Yuen2017 G
ARHGEF7     2-0208-003chr13:
111881347-111881347
GAintronicDe novo--Yuen2017 G
ARHGEF7     AU3053302chr13:
111901372-111901372
TAintronicDe novo--Yuen2017 G
ARHGEF7     AU1894303chr13:
111840698-111840698
GAintronicDe novo--Yuen2017 G
ARHGEF7     AU3053302chr13:
111903756-111903756
GTintronicDe novo--Yuen2017 G
ARHGEF7     AU3809302chr13:
111887152-111887152
TAintronicDe novo--Yuen2017 G
ARHGEF7     AU0452303chr13:
111824407-111824407
GAintronicDe novo--Yuen2017 G
ARHGEF7     1-0138-004chr13:
111769951-111769951
GCintronicDe novo--Yuen2017 G
ARHGEF7     08C76790chr13:
111920018-111920018
GAsplicingDe novosplicing12.29-Satterstrom2020 E
ARHGEF7     13484.p1chr13:
111927032-111927032
ATintronicDe novo--Satterstrom2020 E
ARHGEF7     1-0139-005chr13:
111965284-111965284
CGintergenicDe novo--Yuen2017 G
ARHGEF7     JASD_Fam0224chr13:
111927885-111927885
TCexonicDe novononsynonymous SNVNM_001113512
NM_001113513
NM_003899
NM_145735
NM_001113511
c.T1192C
c.T808C
c.T808C
c.T1279C
c.T1342C
p.C398R
p.C270R
p.C270R
p.C427R
p.C448R
23.8-Takata2018 E
ARHGEF7     2-1154-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
ARHGEF7     3-0469-000chr13:
111882103-111882103
GTintronicDe novo--Yuen2017 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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