Variant Results

or

or

Results for "IGDCC4"

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
IGDCC4	10C102529	chr15: 65703493-65703493	A	G	exonic		De novo	nonsynonymous SNV	NM_020962	c.T286C	p.S96P	15.74	9.0E-4	Satterstrom2020 E
IGDCC4	AC02-1184-01	chr15: 65702705-65702705	G	A	intronic		De novo					-	0.004	Kosmicki2017 E Satterstrom2020 E
IGDCC4	AU048206	chr15: 65678959-65678959	C	T	exonic		De novo	nonsynonymous SNV	NM_020962	c.G2881A	p.V961M	27.7	3.979E-5	Yuen2017 G
IGDCC4	14090.p1	chr15: 65678866-65678866	G	C	intronic		De novo					-	4.855E-5	Satterstrom2020 E
IGDCC4	1-0402-004	chr15: 65680438-65680438	C	T	intronic		De novo					-	-	Yuen2017 G
IGDCC4	Cukier2014:7658	chr15: 65677446-65677446	C	A	exonic		Unknown	nonsynonymous SNV	NM_020962	c.G3188T	p.W1063L	17.89	0.0212	Cukier2014 E
IGDCC4	SP0031728	chr15: 65681184-65681184	G	A	exonic		De novo	nonsynonymous SNV	NM_020962	c.C2669T	p.T890M	18.07	1.669E-5	Feliciano2019 E
IGDCC4	EGAN00001101049	chr15: 65686928-65686928	G	A	intronic		De novo					-	4.619E-5	Satterstrom2020 E

Source Variant Information

, -

Source:

Paper alias:

No records found.

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
Curation notes	View
	More