Variant Results

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Results for "GPRIN1"

Variant Events: 5

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
GPRIN1	SP0135681	chr5: 176024913-176024915	CTT	C	exonic		De novo	frameshift deletion	NM_052899	c.1921_1922del	p.K641fs	-	-	Antaki2022 GE Fu2022 E
GPRIN1	11518.p1	chr5: 176026121-176026134	TCAAAGACCCAGGA	T	exonic		De novo	frameshift deletion	NM_052899	c.702_714del	p.D234fs	-	0.2616	Iossifov2014 E Ji2016 E Kosmicki2017 E
GPRIN1	M02523	chr5: 176026557-176026557	G	T	exonic		Unknown	stopgain	NM_052899	c.C279A	p.C93X	21.1	2.647E-5	Guo2018 T
GPRIN1	U4V8T	chr5: 176024859-176024863	CAAAC	C	exonic		Inherited	frameshift deletion	NM_052899	c.1973_1976del	p.C658fs	-	-	Stessman2017 T
GPRIN1	GX0290.p1	chr5: 176026557-176026557	G	T	exonic		Paternal	stopgain	NM_052899	c.C279A	p.C93X	21.1	2.647E-5	Guo2018 T

Source Variant Information

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Paper Information

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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.
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