Variant Results

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Results for "PCDHA12"

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
PCDHA12	PN400281	chr5: 140257422-140257422	G	T	exonic		Unknown	stopgain	NM_018903 NM_031864	c.G2365T c.G2365T	p.E789X p.E789X	38.0	-	Leblond2019 E
PCDHA12	mAGRE4443	chr5: 140257295-140257295	G	GA	exonic		Maternal	frameshift insertion	NM_018903 NM_031864	c.2239dupA c.2239dupA	p.G746fs p.G746fs	-	1.671E-5	Cirnigliaro2023 G
PCDHA12	PN400282	chr5: 140257422-140257422	G	T	exonic		Unknown	stopgain	NM_018903 NM_031864	c.G2365T c.G2365T	p.E789X p.E789X	38.0	-	Leblond2019 E
PCDHA12	PN400279	chr5: 140257422-140257422	G	T	exonic		Unknown	stopgain	NM_018903 NM_031864	c.G2365T c.G2365T	p.E789X p.E789X	38.0	-	Leblond2019 E
PCDHA12	SP0131113	chr5: 140256852-140256852	G	C	exonic		De novo	nonsynonymous SNV	NM_018903 NM_031864	c.G1795C c.G1795C	p.A599P p.A599P	12.56	-	Fu2022 E Trost2022 G Trost2022 G Trost2022 G Trost2022 G Trost2022 G Trost2022 G Trost2022 G Trost2022 G Trost2022 G Trost2022 G Trost2022 G Zhou2022 GE
PCDHA12	PN400412	chr5: 140257422-140257422	G	T	exonic		Unknown	stopgain	NM_018903 NM_031864	c.G2365T c.G2365T	p.E789X p.E789X	38.0	-	Leblond2019 E
PCDHA12	PN400100	chr5: 140257422-140257422	G	T	exonic		Unknown	stopgain	NM_018903 NM_031864	c.G2365T c.G2365T	p.E789X p.E789X	38.0	-	Leblond2019 E
PCDHA12	PN400524	chr5: 140257422-140257422	G	T	exonic		Unknown	stopgain	NM_018903 NM_031864	c.G2365T c.G2365T	p.E789X p.E789X	38.0	-	Leblond2019 E
PCDHA12	PN400523	chr5: 140257422-140257422	G	T	exonic		Unknown	stopgain	NM_018903 NM_031864	c.G2365T c.G2365T	p.E789X p.E789X	38.0	-	Leblond2019 E

Source Variant Information

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Paper Information

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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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