Variant Results

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Results for "PCDHB3"

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
PCDHB3	PN400543	chr5: 140480895-140480895	C	T	exonic		De novo	nonsynonymous SNV	NM_018937	c.C662T	p.P221L	5.239	5.798E-5	Leblond2019 E
PCDHB3	GM173222	chr5: 140481135-140481135	T	C	exonic		De novo	nonsynonymous SNV	NM_018937	c.T902C	p.M301T	12.57	-	Fu2022 E
PCDHB3	G01-GEA-336_HI	chr5: 140482486-140482486	C	G	exonic		De novo	stopgain	NM_018937	c.C2253G	p.Y751X	14.78	-	Fu2022 E
PCDHB3	mAGRE1091	chr5: 140480806-140480806	C	G	exonic		Paternal	stopgain	NM_018937	c.C573G	p.Y191X	15.18	-	Cirnigliaro2023 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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