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Results for "HGFAC"

Variant Events: 5

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     Li2017:18357chr4:
3448002-3448002
GAexonicUnknownnonsynonymous SNVNM_001528
NM_001297439
c.G1336A
c.G1357A
p.A446T
p.A453T
18.976.824E-5Li2017 T
HGFAC     A25chr4:
3444816-3444816
GTexonicDe novononsynonymous SNVNM_001297439
NM_001528
c.G338T
c.G338T
p.R113L
p.R113L
18.232.132E-5Wu2018 G
HGFAC     Li2017:19649chr4:
3449272-3449272
CTexonicUnknownnonsynonymous SNVNM_001528
NM_001297439
c.C1409T
c.C1430T
p.T470M
p.T477M
16.528.345E-6Li2017 T
HGFAC     Li2017:23240chr4:
3446376-3446376
GCexonicUnknownnonsynonymous SNVNM_001297439
NM_001528
c.G757C
c.G757C
p.G253R
p.G253R
21.22.655E-5Li2017 T
HGFAC     2-1529-003chr4:
3463390-3463390
AGintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
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.
Variant event count
Curation notesView
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