Variant Results

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Results for "ARHGEF17"

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
ARHGEF17	7-0012-003	chr11: 73036667-73036667	C	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
ARHGEF17	SP0076623	chr11: 73075607-73075607	C	T	exonic		De novo	stopgain	NM_014786	c.C5512T	p.R1838X	48.0	-	Antaki2022 GE Fu2022 E Trost2022 G Zhou2022 GE
ARHGEF17	PN400102	chr11: 73076741-73076741	G	A	exonic		Unknown	nonsynonymous SNV	NM_014786	c.G5744A	p.R1915Q	35.0	0.0017	Leblond2019 E
ARHGEF17	SP0039770	chr11: 73022268-73022268	G	T	exonic		De novo	nonsynonymous SNV	NM_014786	c.G2585T	p.S862I	26.3	-	Fu2022 E Trost2022 G Zhou2022 GE
ARHGEF17	PN400157	chr11: 73076741-73076741	G	A	exonic		Unknown	nonsynonymous SNV	NM_014786	c.G5744A	p.R1915Q	35.0	0.0017	Leblond2019 E
ARHGEF17	08C76609	chr11: 73022202-73022202	C	T	exonic		De novo	nonsynonymous SNV	NM_014786	c.C2519T	p.P840L	15.19	-	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
ARHGEF17	11879-1	chr11: 73067540-73067540	C	T	intronic		De novo					-	-	Fu2022 E
ARHGEF17	172-09-111199	chr11: 73020889-73020889	C	T	exonic		De novo	synonymous SNV	NM_014786	c.C1206T	p.D402D	-	-	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
ARHGEF17	37419	chr11: 73057978-73057978	T	C	exonic		De novo	synonymous SNV	NM_014786	c.T3243C	p.Y1081Y	7.682	1.139E-5	Trost2022 G
ARHGEF17	14592.p1	chr11: 73057978-73057978	T	C	exonic		De novo	synonymous SNV	NM_014786	c.T3243C	p.Y1081Y	7.682	1.139E-5	Iossifov2014 E Kosmicki2017 E Satterstrom2020 E Wilfert2021 G Zhou2022 GE

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Paper Information

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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.
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