Variant Results

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Results for "HEPACAM"

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
HEPACAM	TRE_909	chr11: 124791099-124791099	G	T	exonic		De novo	synonymous SNV	NM_152722	c.C1186A	p.R396R	-	-	Fu2022 E
HEPACAM	SP0110401	chr11: 124790684-124790684	G	A	UTR3		De novo					-	-	Fu2022 E
HEPACAM	11185.p1	chr11: 124794777-124794777	G	A	exonic		De novo	nonsynonymous SNV	NM_152722	c.C274T	p.R92W	20.7	-	Iossifov2014 E Ji2016 E Kosmicki2017 E Krupp2017 E Satterstrom2020 E
HEPACAM	AU048503	chr11: 124793235-124793235	C	T	splicing		Paternal	splicing				13.28	3.301E-5	Zhou2019 T
HEPACAM	SP0101736	chr11: 124793536-124793536	T	G	intronic		De novo					-	-	Fu2022 E
HEPACAM	Li2017:20261	chr11: 124793897-124793897	G	A	exonic		Unknown	nonsynonymous SNV	NM_152722	c.C437T	p.S146L	28.4	3.061E-5	Li2017 T
HEPACAM	SSC00484	chr11: 124794777-124794777	G	A	exonic		De novo	nonsynonymous SNV	NM_152722	c.C274T	p.R92W	20.7	-	Fu2022 E Lim2017 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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