Variant Results

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Results for "ATP6V1B2"

Variant Events: 9

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
ATP6V1B2	2-1437-003	chr8: 20075307-20075308	TA	T	intronic		De novo					-	-	Trost2022 G Yuen2017 G
ATP6V1B2	2-1521-003	chr8: 20101082-20101082	G	A	intergenic		De novo					-	-	Yuen2017 G
ATP6V1B2	5901	chr8: 20054994-20054994	T	G	exonic		De novo	nonsynonymous SNV	NM_001693	c.T77G	p.V26G	8.49	-	Fu2022 E
ATP6V1B2	NP128	chr8: 20072400-20072400	G	A	exonic		De novo	synonymous SNV	NM_001693	c.G999A	p.T333T	-	8.248E-6	Fu2022 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
ATP6V1B2	SP0159265	chr8: 20072410-20072410	C	T	exonic		De novo	nonsynonymous SNV	NM_001693	c.C1009T	p.R337C	18.76	-	Trost2022 G
ATP6V1B2	REACH000644	chr8: 20067981-20067981	A	T	intronic		De novo					-	-	Trost2022 G
ATP6V1B2	AU2579302	chr8: 20070218-20070218	C	G	intronic		De novo					-	-	Trost2022 G
ATP6V1B2	7-0385-003	chr8: 20056211-20056211	C	T	intronic		De novo					-	-	Trost2022 G
ATP6V1B2	SP0029798	chr8: 20068729-20068729	A	G	exonic		De novo	nonsynonymous SNV	NM_001693	c.A505G	p.M169V	22.7	-	Fu2022 E Trost2022 G Zhou2022 GE

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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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