Variant Results

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Results for "PDZD4"

Variant Events: 4

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
PDZD4	A11007	chrX: 153070046-153070046	G	A	exonic		Unknown	nonsynonymous SNV	NM_001303514 NM_001303512 NM_001303515 NM_001303516 NM_032512 NM_001303513	c.C745T c.C1090T c.C847T c.C829T c.C1072T c.C784T	p.R249C p.R364C p.R283C p.R277C p.R358C p.R262C	13.32	-	Li2017 T
PDZD4	A8	chrX: 153070046-153070046	G	A	exonic		De novo	nonsynonymous SNV	NM_001303514 NM_001303512 NM_001303515 NM_001303516 NM_032512 NM_001303513	c.C745T c.C1090T c.C847T c.C829T c.C1072T c.C784T	p.R249C p.R364C p.R283C p.R277C p.R358C p.R262C	13.32	-	Wu2018 G
PDZD4	AU4012302	chrX: 153115964-153115969	TTTCTT	TTT	intergenic		De novo					-	-	Yuen2017 G
PDZD4	2-1213-003	chrX: 153115947-153115977	CTTTCTTTCTTTCTTTCTTTCTTTTTTTTTT	CTTT	intergenic		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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