Variant Results

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Results for "GPRASP1"

Variant Events: 8

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
GPRASP1	SSC06434	chrX: 101911757-101911757	G	T	exonic		De novo	nonsynonymous SNV	NM_001099411 NM_001099410 NM_014710 NM_001184727	c.G2916T c.G2916T c.G2916T c.G2916T	p.W972C p.W972C p.W972C p.W972C	8.035	-	Trost2022 G
GPRASP1	MCD-011-3	chrX: 101909395-101909395	A	G	exonic		Maternal	nonsynonymous SNV	NM_001099411 NM_001099410 NM_014710 NM_001184727	c.A554G c.A554G c.A554G c.A554G	p.E185G p.E185G p.E185G p.E185G	10.96	1.146E-5	Tuncay2023 G
GPRASP1	MSSNG00132-003	chrX: 101909133-101909133	C	A	exonic			nonsynonymous SNV	NM_001099411 NM_001099410 NM_014710 NM_001184727	c.C292A c.C292A c.C292A c.C292A	p.P98T p.P98T p.P98T p.P98T	1.208	-	Zhou2022 GE
GPRASP1	13000.p1	chrX: 101912889-101912889	A	G	exonic		De novo	nonsynonymous SNV	NM_001099411 NM_001099410 NM_014710 NM_001184727	c.A4048G c.A4048G c.A4048G c.A4048G	p.K1350E p.K1350E p.K1350E p.K1350E	9.188	-	O’Roak2014 T Satterstrom2020 E
GPRASP1	SSC07099	chrX: 101912889-101912889	A	G	exonic		De novo	nonsynonymous SNV	NM_001099411 NM_001099410 NM_014710 NM_001184727	c.A4048G c.A4048G c.A4048G c.A4048G	p.K1350E p.K1350E p.K1350E p.K1350E	9.188	-	Trost2022 G
GPRASP1	273-07-108464	chrX: 101909133-101909133	C	A	exonic		De novo	nonsynonymous SNV	NM_001099411 NM_001099410 NM_014710 NM_001184727	c.C292A c.C292A c.C292A c.C292A	p.P98T p.P98T p.P98T p.P98T	1.208	-	Satterstrom2020 E Trost2022 G Zhou2022 GE
GPRASP1	CNV4-116	chrX: 101911960-101911960	G	A	exonic		De novo	nonsynonymous SNV	NM_001099411 NM_001099410 NM_014710 NM_001184727	c.G3119A c.G3119A c.G3119A c.G3119A	p.R1040H p.R1040H p.R1040H p.R1040H	1.385	-	O’Roak2014 T
GPRASP1	12871.p1	chrX: 101911757-101911757	G	T	exonic		De novo	nonsynonymous SNV	NM_001099411 NM_001099410 NM_014710 NM_001184727	c.G2916T c.G2916T c.G2916T c.G2916T	p.W972C p.W972C p.W972C p.W972C	8.035	-	Iossifov2012 E Iossifov2014 E Kosmicki2017 E O’Roak2014 T Satterstrom2020 E Zhou2022 GE

Source Variant Information

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Paper Information

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