Variant Results

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Results for "FAM76B"

Variant Events: 7

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
FAM76B	MSSNG00436-003	chr11: 95521730-95521730	G	C	intronic		De novo					-	-	Trost2022 G Zhou2022 GE
FAM76B	2-1336-003	chr11: 95516280-95516280	T	C	exonic		De novo	nonsynonymous SNV	NM_144664	c.A512G	p.H171R	13.22	-	Yuen2015 G Yuen2017 G Zhou2022 GE
FAM76B	2-1477-003	chr11: 95501714-95501714	C	G	downstream		De novo					-	-	Trost2022 G Yuen2016 G Yuen2017 G
FAM76B	1-0901-003	chr11: 95520121-95520122	TC	AT	intronic		De novo					-	-	Trost2022 G
FAM76B	mAGRE5191	chr11: 95522621-95522621	C	G	exonic		De novo	nonsynonymous SNV	NM_144664	c.G22C	p.A8P	31.0	-	Cirnigliaro2023 G
FAM76B	SP0224004	chr11: 95511959-95511959	C	T	intronic		De novo					-	-	Trost2022 G
FAM76B	AU1933302	chr11: 95503985-95503985	A	C	UTR3		De novo					-	-	Yuen2017 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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