Variant Results

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Results for "PRKRA"

Variant Events: 3

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
PRKRA	G01-GEA-267-HI	chr2: 179308032-179308032	T	G	exonic		De novo	nonsynonymous SNV	NM_001139517 NM_001139518 NM_003690 NM_001316362	c.A443C c.A401C c.A476C c.A137C	p.Y148S p.Y134S p.Y159S p.Y46S	16.93	-	Satterstrom2020 E
PRKRA	SSC07470	chr2: 179306420-179306420	A	G	exonic		De novo	nonsynonymous SNV	NM_001139517 NM_001139518 NM_003690 NM_001316362	c.T493C c.T451C c.T526C c.T187C	p.S165P p.S151P p.S176P p.S63P	23.6	7.431E-5	Fu2022 E
PRKRA	Codina-Sola2015:ASD_34	chr2: 179300871-179300871	C	T	splicing		Unknown	splicing				23.6	-	Codina-Sola2015 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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