Variant Results

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Results for "PRPF38B"

Variant Events: 5

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
PRPF38B	JASD_Fam0153	chr1: 109242140-109242144	AAGAG	A	exonic		De novo	frameshift deletion	NM_018061	c.1140_1143del	p.K380fs	-	3.122E-5	Takata2018 E
PRPF38B	AU3806304	chr1: 109238799-109238799	T	C	exonic		De novo	synonymous SNV	NM_018061	c.T480C	p.L160L	-	-	Trost2022 G Yuen2017 G Zhou2022 GE
PRPF38B	CA144A	chr1: 109235375-109235375	G	C	exonic		De novo	nonsynonymous SNV	NM_018061	c.G162C	p.K54N	17.21	-	Fu2022 E
PRPF38B	SP0226577	chr1: 109242006-109242006	G	T	exonic		De novo	nonsynonymous SNV	NM_018061	c.G1005T	p.R335S	12.16	-	Trost2022 G
PRPF38B	ASP014	chr1: 109242140-109242144	AAGAG	A	exonic		De novo	frameshift deletion	NM_018061	c.1140_1143del	p.K380fs	-	3.122E-5	Fu2022 E Satterstrom2020 E Trost2022 G Zhou2022 GE

Source Variant Information

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Paper Information

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Pubmed
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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