Variant Results

or

or

Results for "GPT"

Variant Events: 4

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
GPT	MT_192.3	chr8: 145732753-145732753	T	C	downstream		De novo					-	-	Trost2022 G
GPT	111302	chr8: 145731233-145731233	C	T	exonic			stopgain	NM_005309	c.C742T	p.Q248X	36.0	6.404E-5	Woodbury-Smith2022 E
GPT	iHART1433	chr8: 145731636-145731636	T	G	exonic		Paternal	stopgain	NM_005309	c.T978G	p.Y326X	20.3	2.0E-4	Ruzzo2019 G
GPT	SP0037273	chr8: 145729709-145729709	C	T	exonic		De novo	nonsynonymous SNV	NM_005309	c.C22T	p.R8W	9.359	9.373E-5	Trost2022 G Zhou2022 GE

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