Variant Results

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Results for "PAK3"

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
PAK3	Mahjani2021:23	chrX: 110385380-110385380	C	T	exonic			nonsynonymous SNV	NM_001128168 NM_001128172 NM_001128173 NM_001128167 NM_001128166 NM_002578	c.C232T c.C232T c.C232T c.C232T c.C232T c.C232T	p.H78Y p.H78Y p.H78Y p.H78Y p.H78Y p.H78Y	27.2	-	Mahjani2021 E
PAK3	2-1254-003	chrX: 110346225-110346239	AAGAGAGAGAGAGAG	AAGAGAGAGAGAGAGAG	intronic		De novo					-	-	Yuen2017 G
PAK3	5-0064-003	chrX: 110248177-110248177	C	T	intronic		De novo					-	-	Yuen2017 G
PAK3	SP0020875	chrX: 110385385-110385385	G	A	exonic			synonymous SNV	NM_001128168 NM_001128172 NM_001128173 NM_001128167 NM_001128166 NM_002578	c.G237A c.G237A c.G237A c.G237A c.G237A c.G237A	p.T79T p.T79T p.T79T p.T79T p.T79T p.T79T	-	1.143E-5	Zhou2022 GE
PAK3	AU2793301	chrX: 110191860-110191860	C	T	intronic		De novo					-	-	Yuen2017 G
PAK3	AU031403	chrX: 110329892-110329896	CTGTG	CTG	intronic		De novo					-	-	Yuen2017 G
PAK3	1-0751-003	chrX: 110429667-110429670	CAAA	CA	intronic		De novo					-	-	Yuen2017 G
PAK3	AU3849303	chrX: 110278922-110278922	T	C	intronic		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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