Variant Results

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Results for "OR6C76"

Variant Events: 5

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
OR6C76	REACH000423	chr12: 55821907-55821907	T	G	downstream		De novo					-	-	Trost2022 G
OR6C76	11C119375	chr12: 55820724-55820724	G	A	exonic		De novo	synonymous SNV	NM_001005183	c.G687A	p.Q229Q	-	-	Fu2022 E Satterstrom2020 E Trost2022 G
OR6C76	2-0003-004	chr12: 55820407-55820407	T	C	exonic		De novo	nonsynonymous SNV	NM_001005183	c.T370C	p.C124R	17.89	-	Trost2022 G Yuen2015 G Yuen2017 G
OR6C76	AU2793301	chr12: 55820288-55820290	CAG	C	exonic		Maternal	frameshift deletion	NM_001005183	c.252_253del	p.T84fs	-	7.0E-4	Cirnigliaro2023 G
OR6C76	iHART3004	chr12: 55820288-55820290	CAG	C	exonic		Maternal	frameshift deletion	NM_001005183	c.252_253del	p.T84fs	-	7.0E-4	Ruzzo2019 G

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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