Variant Results

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Results for "KLK1"

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
KLK1	SJD_50	chr19: 51326994-51326994	A	C	exonic		Maternal	nonsynonymous SNV	NM_002257	c.T11G	p.L4R	14.0	3.32E-5	Toma2013 E
KLK1	SP0011335	chr19: 51325893-51325893	G	A	intronic		De novo					-	-	Fu2022 E Trost2022 G
KLK1	iHART3220	chr19: 51323623-51323627	TCTCA	T	exonic		Maternal	frameshift deletion	NM_002257	c.279_282del	p.S93fs	-	-	Ruzzo2019 G
KLK1	14232.p1	chr19: 51323488-51323488	C	T	exonic		De novo	nonsynonymous SNV	NM_002257	c.G418A	p.V140M	9.498	-	Iossifov2014 E Kosmicki2017 E Krupp2017 E Lim2017 E Satterstrom2020 E Trost2022 G Zhou2022 GE
KLK1	14232_p1	chr19: 51323488-51323488	C	T	exonic		De novo	nonsynonymous SNV	NM_002257	c.G418A	p.V140M	9.498	-	Fu2022 E
KLK1	AU3903302	chr19: 51323623-51323627	TCTCA	T	exonic		Maternal	frameshift deletion	NM_002257	c.279_282del	p.S93fs	-	-	Cirnigliaro2023 G
KLK1	mAGRE4318	chr19: 51323293-51323293	T	C	splicing		Paternal	splicing				11.98	7.428E-5	Cirnigliaro2023 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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