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Results for "F13A1"

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
F13A1     2-1456-004chr6:
6342135-6342135
TCintergenicDe novo--Yuen2017 G
F13A1     AU024608chr6:
6291474-6291474
CTintronicDe novo--Yuen2017 G
F13A1     AU4435301chr6:
6224594-6224594
TGintronicDe novo--Yuen2017 G
F13A1     2-1116-003chr6:
6232164-6232164
TGintronicDe novo--Yuen2017 G
F13A1     7-0192-003chr6:
6312413-6312413
CGintronicDe novo--Yuen2017 G
F13A1     Cukier2014:37994chr6:
6251120-6251120
TAexonicUnknownnonsynonymous SNVNM_000129c.A614Tp.Y205F16.860.0172Cukier2014 E
F13A1     AU4228301chr6:
6152106-6152106
CTexonicDe novononsynonymous SNVNM_000129c.G1985Ap.R662Q3.8342.0E-4Yuen2017 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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