Variant Results

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Results for "PCDHGA11"

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
PCDHGA11	Shi2013:2	chr5: 140801083-140801083	T	G	exonic		Inherited	nonsynonymous SNV	NM_018914 NM_032091 NM_032092	c.T289G c.T289G c.T289G	p.C97G p.C97G p.C97G	21.0	6.654E-5	Shi2013 G
PCDHGA11	mAGRE2796	chr5: 140801733-140801733	T	G	exonic		Paternal	stopgain	NM_018914 NM_032091 NM_032092	c.T939G c.T939G c.T939G	p.Y313X p.Y313X p.Y313X	19.25	8.89E-6	Cirnigliaro2023 G
PCDHGA11	mAGRE6071	chr5: 140801686-140801686	C	T	exonic		Maternal	stopgain	NM_018914 NM_032091 NM_032092	c.C892T c.C892T c.C892T	p.Q298X p.Q298X p.Q298X	17.02	3.427E-5	Cirnigliaro2023 G
PCDHGA11	Shi2013:1	chr5: 140801083-140801083	T	G	exonic		Inherited	nonsynonymous SNV	NM_018914 NM_032091 NM_032092	c.T289G c.T289G c.T289G	p.C97G p.C97G p.C97G	21.0	6.654E-5	Shi2013 G
PCDHGA11	1-0158-003	chr5: 140802723-140802726	CGTG	C	exonic		De novo	nonframeshift deletion	NM_018914 NM_032091	c.1930_1932del c.1930_1932del	p.644_644del p.644_644del	-	0.0012	Yuen2017 G
PCDHGA11	04C35260	chr5: 140802134-140802135	AC	A	exonic		De novo	frameshift deletion	NM_018914 NM_032091 NM_032092	c.1341delC c.1341delC c.1341delC	p.N447fs p.N447fs p.N447fs	-	-	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE
PCDHGA11	4-0062-003	chr5: 140801211-140801212	GG	TC	exonic		De novo	nonframeshift substitution	NM_018914 NM_032091 NM_032092	c.417_418TC c.417_418TC c.417_418TC	N/A N/A N/A	-	-	Trost2022 G
PCDHGA11	iHART2796	chr5: 140801733-140801733	T	G	exonic		Paternal	stopgain	NM_018914 NM_032091 NM_032092	c.T939G c.T939G c.T939G	p.Y313X p.Y313X p.Y313X	19.25	8.89E-6	Ruzzo2019 G
PCDHGA11	mAGRE5399	chr5: 140801795-140801796	TG	T	exonic		Maternal	frameshift deletion	NM_018914 NM_032091 NM_032092	c.1002delG c.1002delG c.1002delG	p.M334fs p.M334fs p.M334fs	-	4.495E-5	Cirnigliaro2023 G

Source Variant Information

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Paper Information

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