Variant Results

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Results for "PROCA1"

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
PROCA1	SP0023546	chr17: 27031351-27031351	C	T	exonic		De novo	synonymous SNV	NM_001304954 NM_152465 NM_001304949 NM_001304952 NM_001304953	c.G114A c.G330A c.G303A c.G336A c.G114A	p.E38E p.E110E p.E101E p.E112E p.E38E	-	-	Fu2022 E
PROCA1	Shi2013:2	chr17: 27030631-27030631	G	GG	exonic		Inherited	frameshift insertion	NM_001304951 NM_001304954 NM_152465 NM_001304949 NM_001304952 NM_001304953	c.608dupC c.740dupC c.956dupC c.929dupC c.962dupC c.740dupC	p.A203fs p.A247fs p.A319fs p.A310fs p.A321fs p.A247fs	-	-	Shi2013 G
PROCA1	7-0023-003	chr17: 27033354-27033354	G	A	intronic		De novo					-	-	Yuen2017 G
PROCA1	Codina-Sola2015:ASD_34	chr17: 27031323-27031323	A	C	splicing		Unknown	splicing				16.71	0.0051	Codina-Sola2015 E
PROCA1	Shi2013:1	chr17: 27030631-27030631	G	GG	exonic		Inherited	frameshift insertion	NM_001304951 NM_001304954 NM_152465 NM_001304949 NM_001304952 NM_001304953	c.608dupC c.740dupC c.956dupC c.929dupC c.962dupC c.740dupC	p.A203fs p.A247fs p.A319fs p.A310fs p.A321fs p.A247fs	-	-	Shi2013 G
PROCA1	2-1741-003	chr17: 27030158-27030158	G	T	downstream		De novo					-	-	Yuen2017 G
PROCA1	2-1169-004	chr17: 27032528-27032528	G	C	intronic		De novo					-	-	Yuen2017 G

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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