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Results for "ARHGEF17"

Variant Events: 9

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
ARHGEF17     7-0012-003chr11:
73036667-73036667
CTintronicDe novo--Yuen2017 G
ARHGEF17     SP0076623chr11:
73075607-73075607
CTexonicDe novostopgainNM_014786c.C5512Tp.R1838X48.0-Antaki2022 GE
Fu2022 E
ARHGEF17     PN400102chr11:
73076741-73076741
GAexonicUnknownnonsynonymous SNVNM_014786c.G5744Ap.R1915Q35.00.0017Leblond2019 E
ARHGEF17     SP0039770chr11:
73022268-73022268
GTexonicDe novononsynonymous SNVNM_014786c.G2585Tp.S862I26.3-Fu2022 E
ARHGEF17     PN400157chr11:
73076741-73076741
GAexonicUnknownnonsynonymous SNVNM_014786c.G5744Ap.R1915Q35.00.0017Leblond2019 E
ARHGEF17     08C76609chr11:
73022202-73022202
CTexonicDe novononsynonymous SNVNM_014786c.C2519Tp.P840L15.19-Fu2022 E
Satterstrom2020 E
ARHGEF17     11879-1chr11:
73067540-73067540
CTintronicDe novo--Fu2022 E
ARHGEF17     172-09-111199chr11:
73020889-73020889
CTexonicDe novosynonymous SNVNM_014786c.C1206Tp.D402D--Fu2022 E
Satterstrom2020 E
ARHGEF17     14592.p1chr11:
73057978-73057978
TCexonicDe novosynonymous SNVNM_014786c.T3243Cp.Y1081Y7.6821.139E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
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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