Variant Results

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Results for "IGSF10"

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
IGSF10	1-0104-003	chr3: 151189032-151189034	CTG	C	intergenic		De novo					-	-	Yuen2017 G
IGSF10	13187.p1	chr3: 151164292-151164292	G	A	exonic		De novo	synonymous SNV	NM_178822	c.C3477T	p.N1159N	-	5.0E-4	Iossifov2012 E Iossifov2014 E Kosmicki2017 E Satterstrom2020 E
IGSF10	EGAN00001101243	chr3: 151165455-151165455	G	A	exonic		De novo	stopgain	NM_178822	c.C2314T	p.R772X	36.0	2.0E-4	Satterstrom2020 E
IGSF10	12679.p1	chr3: 151164717-151164717	C	T	exonic		De novo	nonsynonymous SNV	NM_178822	c.G3052A	p.G1018R	12.78	7.416E-5	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E
IGSF10	2-1336-004	chr3: 151227904-151227904	T	TA	intergenic		De novo					-	-	Yuen2017 G
IGSF10	iHART2763	chr3: 151171535-151171535	G	A	exonic		Paternal	stopgain	NM_178822	c.C352T	p.R118X	32.0	1.0E-4	Ruzzo2019 G
IGSF10	iHART2765	chr3: 151171535-151171535	G	A	exonic		Paternal	stopgain	NM_178822	c.C352T	p.R118X	32.0	1.0E-4	Ruzzo2019 G
IGSF10	iHART2764	chr3: 151171535-151171535	G	A	exonic		Paternal	stopgain	NM_178822	c.C352T	p.R118X	32.0	1.0E-4	Ruzzo2019 G
IGSF10	Cukier2014:37994	chr3: 151154509-151154509	C	T	exonic		Unknown	nonsynonymous SNV	NM_001178145 NM_001178146 NM_178822	c.G1921A c.G1777A c.G7840A	p.D641N p.D593N p.D2614N	26.0	0.0081	Cukier2014 E
IGSF10	1-0255-003	chr3: 151221372-151221372	G	C	intergenic		De novo					-	-	Yuen2017 G

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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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