Variant Results

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Results for "ACTL6B"

Variant Events: 8

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
ACTL6B	14059.p1	chr7: 100252651-100252651	G	A	exonic		Mosaic	synonymous SNV	NM_016188	c.C360T	p.S120S	-	-	Krupp2017 E
ACTL6B	Krgovic2022:033532	chr7: 100245132-100245132	G	T	exonic		Unknown	nonsynonymous SNV	NM_016188	c.C694A	p.P232T	17.78	-	Krgovic2022 E
ACTL6B	SP0040938	chr7: 100253021-100253021	G	T	intronic		De novo					-	-	Fu2022 E Trost2022 G
ACTL6B	14-591	chr7: 100244600-100244600	G	A	exonic		De novo	synonymous SNV	NM_016188	c.C930T	p.N310N	-	1.654E-5	Trost2022 G Zhou2022 GE
ACTL6B	AU4067303	chr7: 100240313-100240313	C	A	downstream		Maternal					-	-	Cirnigliaro2023 G
ACTL6B	AU4067301	chr7: 100240313-100240313	C	A	downstream		Maternal					-	-	Cirnigliaro2023 G
ACTL6B	iHART3278	chr7: 100240313-100240313	C	A	downstream		Unknown					-	-	Ruzzo2019 G
ACTL6B	iHART3275	chr7: 100240313-100240313	C	A	downstream		Unknown					-	-	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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