Variant Results

or

or

Results for "B4GALNT3"

Variant Events: 9

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
B4GALNT3	1-0300-004	chr12: 670257-670257	T	C	intronic		De novo					-	-	Yuen2017 G
B4GALNT3	iHART2136	chr12: 655811-655811	G	T	splicing		Paternal	splicing				12.62	9.541E-5	Ruzzo2019 G
B4GALNT3	1-0263-003	chr12: 666069-666069	G	A	intronic		De novo					-	3.765E-5	Yuen2016 G
B4GALNT3	SP0131541	chr12: 657501-657501	A	T	intronic		De novo					-	-	Fu2022 E
B4GALNT3	AU1019301	chr12: 668548-668548	G	A	exonic		Unknown	nonsynonymous SNV	NM_173593	c.G2849A	p.R950Q	23.4	0.0025	Chahrour2012 E
B4GALNT3	AU3692302	chr12: 645948-645948	G	A	intronic		De novo					-	-	Yuen2017 G
B4GALNT3	2-1440-003	chr12: 589991-589991	C	T	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
B4GALNT3	7-0130-003	chr12: 627002-627002	C	T	intronic		De novo					-	-	Yuen2017 G
B4GALNT3	AU1019301	chr12: 662878-662878	G	A	exonic		Unknown	nonsynonymous SNV	NM_173593	c.G1789A	p.A597T	7.395	6.665E-5	Chahrour2012 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