Variant Results

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Results for "WNT8A"

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
WNT8A	2-1620-004	chr5: 137441261-137441261	G	T	intergenic		De novo					-	-	Yuen2017 G
WNT8A	5-0033-004	chr5: 137433795-137433797	AAG	A	intergenic		De novo					-	-	Yuen2017 G
WNT8A	MSSNG00428-003	chr5: 137426334-137426334	G	A	exonic		De novo	nonsynonymous SNV	NM_001300938 NM_001300939 NM_058244	c.G682A c.G682A c.G628A	p.A228T p.A228T p.A210T	11.55	-	Trost2022 G Zhou2022 GE
WNT8A	111311	chr5: 137423525-137423525	T	C	exonic			nonsynonymous SNV	NM_001300938 NM_001300939 NM_058244	c.T326C c.T326C c.T272C	p.I109T p.I109T p.I91T	22.8	-	Woodbury-Smith2022 E
WNT8A	1-0305-004	chr5: 137440770-137440770	T	G	intergenic		De novo					-	-	Yuen2017 G
WNT8A	AU3728301	chr5: 137446695-137446702	ATTTTTTT	ATTTTTT	intergenic		De novo					-	-	Yuen2017 G
WNT8A	SP0001854	chr5: 137423645-137423645	T	G	intronic		De novo					-	5.812E-5	Fu2022 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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