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Results for "ARHGEF33"

Variant Events: 10

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     AU4246304chr2:
39157441-39157441
AGintronicDe novo--Yuen2017 G
ARHGEF33     200675594@1082034690chr2:
39184185-39184185
AGexonicDe novononsynonymous SNVNM_001145451c.A1367Gp.K456R13.43-Satterstrom2020 E
ARHGEF33     AU2711303chr2:
39153966-39153966
CTintronicDe novo--Yuen2017 G
ARHGEF33     1-0518-003chr2:
39157782-39157782
CTintronicDe novo--Yuen2016 G
Yuen2017 G
ARHGEF33     12321.p1chr2:
39148582-39148582
GTintronicDe novo--Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
ARHGEF33     AU003406chr2:
39207526-39207526
CTintergenicDe novo--Yuen2017 G
ARHGEF33     1-0347-003chr2:
39170737-39170737
GTintronicDe novo--Yuen2017 G
ARHGEF33     11085.p1chr2:
39198970-39198970
AGintronicDe novo--Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
ARHGEF33     Chen2017:91chr2:
39184185-39184185
AGexonicDe novononsynonymous SNVNM_001145451c.A1367Gp.K456R13.43-Chen2017 E
ARHGEF33     11411.p1chr2:
39185135-39185135
CTintronicMosaic--Dou2017 E
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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