Variant Results

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Results for "WNT9A"

Variant Events: 10

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
WNT9A	M21639	chr1: 228113120-228113120	G	A	exonic		Unknown	nonsynonymous SNV	NM_003395	c.C196T	p.R66W	20.4	4.817E-5	Wang2020 T Wang2020 T
WNT9A	M23679	chr1: 228113107-228113107	C	T	exonic		Maternal, Unknown	nonsynonymous SNV	NM_003395	c.G209A	p.R70H	29.4	2.267E-5	Stessman2017 T Wang2020 T Wang2020 T
WNT9A	J3L5W	chr1: 228113023-228113023	C	A	exonic		Unknown	nonsynonymous SNV	NM_003395	c.G293T	p.R98L	29.0	1.608E-5	Wang2020 T Wang2020 T
WNT9A	362.302	chr1: 228109320-228109320	G	A	exonic		Unknown	nonsynonymous SNV	NM_003395	c.C997T	p.R333W	19.08	-	Wang2020 T Wang2020 T
WNT9A	E7C2S	chr1: 228109385-228109385	C	T	exonic		Unknown	nonsynonymous SNV	NM_003395	c.G932A	p.R311H	29.2	1.694E-5	Stessman2017 T Wang2020 T Wang2020 T
WNT9A	09C91467	chr1: 228113120-228113120	G	A	exonic		Unknown	nonsynonymous SNV	NM_003395	c.C196T	p.R66W	20.4	4.817E-5	Wang2020 T Wang2020 T Wang2020 T
WNT9A	M8865	chr1: 228112065-228112065	G	A	exonic		Unknown	nonsynonymous SNV	NM_003395	c.C389T	p.S130L	27.2	-	Wang2020 T Wang2020 T
WNT9A	11042.p1	chr1: 228111953-228111954	GC	G	exonic		De novo	frameshift deletion	NM_003395	c.500delG	p.G167fs	-	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Satterstrom2020 E Wang2020 T
WNT9A	13069.p1	chr1: 228116591-228116591	C	G	intronic		De novo					-	-	Turner2016 G
WNT9A	AU2140305	chr1: 228124266-228124266	C	T	intronic		De novo					-	-	Yuen2017 G

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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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