Variant Results

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Results for "PRKCSH"

Variant Events: 7

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
PRKCSH	SP0043623	chr19: 11556354-11556354	C	T	intronic		De novo					-	-	Fu2022 E
PRKCSH	iHART3207	chr19: 11559732-11559732	C	G	exonic		Maternal	stopgain	NM_001289102 NM_001001329 NM_001289103 NM_001289104 NM_002743	c.C1260G c.C1260G c.C1290G c.C1290G c.C1269G	p.Y420X p.Y420X p.Y430X p.Y430X p.Y423X	21.7	8.242E-6	Ruzzo2019 G
PRKCSH	ASC_CA_94_A	chr19: 11547236-11547236	C	G	exonic		De novo	nonsynonymous SNV	NM_001289102 NM_001001329 NM_001289103 NM_001289104 NM_002743	c.C106G c.C106G c.C106G c.C106G c.C106G	p.P36A p.P36A p.P36A p.P36A p.P36A	16.09	-	Fu2022 E Satterstrom2020 E
PRKCSH	iHART3206	chr19: 11559732-11559732	C	G	exonic		Maternal	stopgain	NM_001289102 NM_001001329 NM_001289103 NM_001289104 NM_002743	c.C1260G c.C1260G c.C1290G c.C1290G c.C1269G	p.Y420X p.Y420X p.Y430X p.Y430X p.Y423X	21.7	8.242E-6	Ruzzo2019 G
PRKCSH	Codina-Sola2015:ASD_34	chr19: 11547022-11547025	GTCC	G	intronic		Unknown					-	0.0395	Codina-Sola2015 E
PRKCSH	AU2333302	chr19: 11551878-11551878	T	C	intronic		De novo					-	-	Yuen2017 G
PRKCSH	09C90226	chr19: 11551878-11551878	T	C	intronic		De novo					-	-	Fu2022 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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