Variant Results

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Results for "F13A1"

Variant Events: 10

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
F13A1	2-1456-004	chr6: 6342135-6342135	T	C	intergenic		De novo					-	-	Yuen2017 G
F13A1	AU024608	chr6: 6291474-6291474	C	T	intronic		De novo					-	-	Yuen2017 G
F13A1	SP0134680	chr6: 6318919-6318919	C	CATA	intronic		De novo					-	-	Fu2022 E
F13A1	SP0127245	chr6: 6167612-6167612	T	A	intronic		De novo					-	-	Fu2022 E
F13A1	AU4435301	chr6: 6224594-6224594	T	G	intronic		De novo					-	-	Yuen2017 G
F13A1	2-1116-003	chr6: 6232164-6232164	T	G	intronic		De novo					-	-	Yuen2017 G
F13A1	7-0192-003	chr6: 6312413-6312413	C	G	intronic		De novo					-	-	Yuen2017 G
F13A1	Cukier2014:37994	chr6: 6251120-6251120	T	A	exonic		Unknown	nonsynonymous SNV	NM_000129	c.A614T	p.Y205F	16.86	0.0172	Cukier2014 E
F13A1	SP0050367	chr6: 6174841-6174841	C	T	exonic		De novo	synonymous SNV	NM_000129	c.G1719A	p.T573T	-	2.471E-5	Fu2022 E
F13A1	AU4228301	chr6: 6152106-6152106	C	T	exonic		De novo	nonsynonymous SNV	NM_000129	c.G1985A	p.R662Q	3.834	2.0E-4	Yuen2017 G

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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