or
or
Exact

Results for "ARHGEF16"

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
ARHGEF16     11532.p1chr1:
3383909-3383909
CTintronicDe novo-2.0E-4Krumm2015 E
Satterstrom2020 E
ARHGEF16     SSC07371chr1:
3385486-3385486
CTexonicDe novononsynonymous SNVNM_014448c.C847Tp.R283W12.46-Lim2017 E
ARHGEF16     74-0450chr1:
3391344-3391344
AGexonicInheritednonsynonymous SNVNM_014448c.A1378Gp.K460E16.74-Patowary2019 E
ARHGEF16     3C545chr1:
3385465-3385465
GAexonicDe novononsynonymous SNVNM_014448c.G826Ap.D276N7.654-Fu2022 E
Satterstrom2020 E
ARHGEF16     13350.p1chr1:
3385486-3385486
CTexonicDe novo, Mosaicnonsynonymous SNVNM_014448c.C847Tp.R283W12.46-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
ARHGEF16     iHART1992chr1:
3394591-3394591
GCsplicingPaternalsplicing15.044.171E-5Ruzzo2019 G
ARHGEF16     iHART1191chr1:
3371372-3371389
GCAGGTGAGCCTGGGGGAGUTR5Maternal--Ruzzo2019 G
ARHGEF16     iHART1991chr1:
3394591-3394591
GCsplicingPaternalsplicing15.044.171E-5Ruzzo2019 G
ARHGEF16     200675758@1082034134chr1:
3389823-3389823
GAintronicDe novo--Satterstrom2020 E
ARHGEF16     SP0052241chr1:
3380265-3380265
GAintronicDe novo--Fu2022 E
Source Variant Information

, -

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
More