Variant Results

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Results for "GGT6"

Variant Events: 3

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
GGT6	iHART3295	chr17: 4461705-4461707	GCA	G	exonic		Paternal	frameshift deletion	NM_001288704 NM_153338 NM_001122890 NM_001288702 NM_001288703	c.399_400del c.989_990del c.1085_1086del c.1103_1104del c.495_496del	p.C133fs p.V330fs p.V362fs p.V368fs p.C165fs	-	8.409E-6	Ruzzo2019 G
GGT6	iHART3297	chr17: 4461705-4461707	GCA	G	exonic		Paternal	frameshift deletion	NM_001288704 NM_153338 NM_001122890 NM_001288702 NM_001288703	c.399_400del c.989_990del c.1085_1086del c.1103_1104del c.495_496del	p.C133fs p.V330fs p.V362fs p.V368fs p.C165fs	-	8.409E-6	Ruzzo2019 G
GGT6	Cukier2014:18074	chr17: 4463713-4463713	A	G	exonic		Unknown	nonsynonymous SNV	NM_001122890 NM_001288702 NM_001288703 NM_001288704 NM_153338	c.T104C c.T104C c.T104C c.T104C c.T104C	p.L35P p.L35P p.L35P p.L35P p.L35P	15.53	0.0211	Cukier2014 E

Source Variant Information

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Paper Information

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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.
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