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Results for "ARHGEF16"

Variant Events: 17

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     SJD_8.3chr1:
3393874-3393874		CGintronicDe novo--Trost2022 G
ARHGEF16     11532.p1chr1:
3383909-3383909		CTintronicDe novo-2.0E-4Krumm2015 E
Satterstrom2020 E
Zhou2022 GE
ARHGEF16     SSC00390chr1:
3383909-3383909		CTintronicDe novo-2.0E-4Trost2022 G
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     MSSNG00034-003chr1:
3375682-3375682		GAintronicDe novo--Trost2022 G
ARHGEF16     3C545chr1:
3385465-3385465		GAexonicDe novononsynonymous SNVNM_014448c.G826Ap.D276N7.654-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
ARHGEF16     13350.p1chr1:
3385486-3385486		CTexonicMosaic, De novononsynonymous SNVNM_014448c.C847Tp.R283W12.46-Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Zhou2022 GE
ARHGEF16     iHART1992chr1:
3394591-3394591		GCsplicingPaternalsplicing15.044.171E-5Ruzzo2019 G
ARHGEF16     iHART1191chr1:
3371372-3371389		GCAGGTGAGCCTGGGGGAGUTR5Maternal--Ruzzo2019 G
ARHGEF16     mAGRE1992chr1:
3394591-3394591		GCsplicingPaternalsplicing15.044.171E-5Cirnigliaro2023 G
ARHGEF16     mAGRE1991chr1:
3394591-3394591		GCsplicingPaternalsplicing15.044.171E-5Cirnigliaro2023 G
ARHGEF16     iHART1991chr1:
3394591-3394591		GCsplicingPaternalsplicing15.044.171E-5Ruzzo2019 G
ARHGEF16     AU2248302chr1:
3382719-3382719		TTGexonicMaternalframeshift insertionNM_014448c.597dupGp.L199fs-1.0E-4Cirnigliaro2023 G
ARHGEF16     mAGRE1191chr1:
3371372-3371389		GCAGGTGAGCCTGGGGGAGUTR5Maternal--Cirnigliaro2023 G
ARHGEF16     200675758@1082034134chr1:
3389823-3389823		GAintronicDe novo--Satterstrom2020 E
Trost2022 G
ARHGEF16     SP0052241chr1:
3380265-3380265		GAintronicDe novo--Fu2022 E
Source Variant Information

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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
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