Variant Results

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Results for "HGFAC"

Variant Events: 6

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
HGFAC	Li2017:18357	chr4: 3448002-3448002	G	A	exonic		Unknown	nonsynonymous SNV	NM_001528 NM_001297439	c.G1336A c.G1357A	p.A446T p.A453T	18.97	6.824E-5	Li2017 T
HGFAC	A25	chr4: 3444816-3444816	G	T	exonic		De novo	nonsynonymous SNV	NM_001297439 NM_001528	c.G338T c.G338T	p.R113L p.R113L	18.23	2.132E-5	Wu2018 G
HGFAC	Li2017:19649	chr4: 3449272-3449272	C	T	exonic		Unknown	nonsynonymous SNV	NM_001528 NM_001297439	c.C1409T c.C1430T	p.T470M p.T477M	16.52	8.345E-6	Li2017 T
HGFAC	2-1529-003	chr4: 3463390-3463390	A	G	intergenic		De novo					-	-	Yuen2017 G
HGFAC	SP0073956	chr4: 3451017-3451017	C	T	exonic		De novo	synonymous SNV	NM_001528 NM_001297439	c.C1839T c.C1860T	p.Y613Y p.Y620Y	-	1.683E-5	Fu2022 E
HGFAC	Li2017:23240	chr4: 3446376-3446376	G	C	exonic		Unknown	nonsynonymous SNV	NM_001297439 NM_001528	c.G757C c.G757C	p.G253R p.G253R	21.2	2.655E-5	Li2017 T

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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