Variant Results

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Results for "LCT"

Variant Events: 8

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
LCT	SP0061928	chr2: 136575391-136575391	G	A	exonic		De novo	synonymous SNV	NM_002299	c.C1227T	p.S409S	-	-	Fu2022 E
LCT	SP0004650	chr2: 136552342-136552342	C	T	exonic		De novo	synonymous SNV	NM_002299	c.G4980A	p.L1660L	-	-	Fu2022 E
LCT	SP0065532	chr2: 136574819-136574819	G	C	intronic		De novo					-	-	Fu2022 E
LCT	SP0003819	chr2: 136569992-136569992	C	A	exonic		De novo	nonsynonymous SNV	NM_002299	c.G2242T	p.V748F	16.09	4.118E-5	Fu2022 E
LCT	5-0114-003	chr2: 136583602-136583602	A	G	intronic		De novo					-	-	Yuen2017 G
LCT	MT_28	chr2: 136594528-136594528	A	C	exonic		Maternal	nonsynonymous SNV	NM_002299	c.T212G	p.F71C	10.67	-	Toma2013 E
LCT	SP0092895	chr2: 136594774-136594774	T	A	upstream		De novo					-	-	Fu2022 E
LCT	A1446B	chr2: 136566672-136566672	C	T	exonic		De novo	nonsynonymous SNV	NM_002299	c.G3245A	p.G1082E	4.548	-	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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