Variant Results

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Results for "PRPF19"

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
PRPF19	02.s1	chr11: 60671209-60671209	G	A	exonic		De novo	synonymous SNV	NM_014502	c.C144T	p.S48S	-	5.795E-5	An2014 E
PRPF19	SP0067277	chr11: 60671301-60671301	A	G	exonic		De novo	nonsynonymous SNV	NM_014502	c.T52C	p.S18P	29.6	-	Fu2022 E
PRPF19	1-0139-005	chr11: 60676947-60676947	A	G	intergenic		De novo					-	-	Yuen2017 G
PRPF19	NDAR_INVGW395LFN_wes1	chr11: 60666746-60666746	T	G	exonic		De novo	nonsynonymous SNV	NM_014502	c.A859C	p.T287P	27.5	0.0043	Lim2017 E
PRPF19	SP0057831	chr11: 60668971-60668971	C	T	exonic		De novo	synonymous SNV	NM_014502	c.G567A	p.K189K	-	-	Fu2022 E
PRPF19	SP0057841	chr11: 60666690-60666690	A	C	exonic		De novo	nonsynonymous SNV	NM_014502	c.T915G	p.H305Q	21.6	-	Fu2022 E
PRPF19	SP0046607	chr11: 60668305-60668305	G	A	intronic		De novo					-	5.84E-5	Fu2022 E

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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