Variant Results

or

or

Results for "MAG"

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
MAG	2-1497-003	chr19: 35813969-35813969	C	T	intergenic		De novo					-	-	Yuen2017 G
MAG	AU1848302	chr19: 35795206-35795228	TCCCCTGATCCCTGTTACACCCC	TCCCC	intronic		De novo					-	-	Yuen2017 G
MAG	2-1567-004	chr19: 35810400-35810400	A	C	intergenic		De novo					-	-	Yuen2017 G
MAG	2-0012-004	chr19: 35788565-35788578	CACACCACACACAT	C	intronic		De novo					-	-	Yuen2017 G
MAG	AU3692301	chr19: 35808355-35808355	C	T	intergenic		De novo					-	-	Yuen2017 G
MAG	JASD_Fam0248	chr19: 35791072-35791072	G	A	exonic		De novo	nonsynonymous SNV	NM_001199216 NM_002361 NM_080600	c.G660A c.G735A c.G735A	p.M220I p.M245I p.M245I	0.044	-	Takata2018 E
MAG	AU056804	chr19: 35809098-35809098	T	C	intergenic		De novo					-	-	Yuen2017 G
MAG	SP0003348	chr19: 35786511-35786511	C	T	intronic		De novo					-	-	Fu2022 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