Variant Results

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Results for "PCDH1"

Variant Events: 9

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
PCDH1	More2023:15	chr5: 141243507-141243507	G	A	exonic		Inherited	nonsynonymous SNV	NM_001278615 NM_001278613 NM_002587 NM_032420	c.C1252T c.C2437T c.C2389T c.C2389T	p.R418C p.R813C p.R797C p.R797C	14.8	4.194E-5	More2023 G
PCDH1	AU1436302	chr5: 141233956-141233956	C	T	exonic		De novo	nonsynonymous SNV	NM_032420	c.G3365A	p.R1122Q	3.162	1.734E-5	Fu2022 E Satterstrom2020 E
PCDH1	13023_p1	chr5: 141243011-141243011	C	A	exonic		De novo	nonsynonymous SNV	NM_001278615 NM_001278613 NM_002587 NM_032420	c.G1748T c.G2933T c.G2885T c.G2885T	p.S583I p.S978I p.S962I p.S962I	17.23	-	Fu2022 E
PCDH1	SP0133840	chr5: 141244787-141244787	C	T	exonic		De novo	nonsynonymous SNV	NM_001278613 NM_002587 NM_032420	c.G1157A c.G1109A c.G1109A	p.R386H p.R370H p.R370H	23.5	8.237E-6	Fu2022 E
PCDH1	1-0191-003	chr5: 141248230-141248230	G	A	exonic		De novo	synonymous SNV	NM_001278613 NM_002587 NM_032420	c.C855T c.C807T c.C807T	p.T285T p.T269T p.T269T	-	2.56E-5	Yuen2017 G
PCDH1	2-0286-004	chr5: 141244257-141244257	G	A	exonic		De novo	nonsynonymous SNV	NM_001278615 NM_001278613 NM_002587 NM_032420	c.C502T c.C1687T c.C1639T c.C1639T	p.P168S p.P563S p.P547S p.P547S	10.58	8.242E-6	Yuen2015 G Yuen2017 G
PCDH1	13023.p1	chr5: 141243011-141243011	C	A	exonic		De novo	nonsynonymous SNV	NM_001278615 NM_001278613 NM_002587 NM_032420	c.G1748T c.G2933T c.G2885T c.G2885T	p.S583I p.S978I p.S962I p.S962I	17.23	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Lim2017 E Satterstrom2020 E Turner2016 G
PCDH1	1-0325-003	chr5: 141249505-141249505	C	T	intronic		De novo					-	-	Yuen2017 G
PCDH1	1-0489-003	chr5: 141264862-141264877	ATGTGTGTGTGTGTGT	ATGTGTGTGTGTGT	intergenic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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