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Results for "COL13A1"

Variant Events: 11

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
COL13A1     60-2027chr10:
71650267-71650267
CAintronicInherited--Michaelson2012 G
COL13A1     1-0225-003chr10:
71760648-71760648
ATintergenicDe novo--Yuen2017 G
COL13A1     2-0116-004chr10:
71735244-71735246
ATTAintergenicDe novo--Yuen2017 G
COL13A1     5-0055-004chr10:
71729367-71729367
GAintergenicDe novo--Yuen2017 G
COL13A1     AU2792301chr10:
71793630-71793630
CAintergenicDe novo--Yuen2017 G
COL13A1     2-1497-003chr10:
71595045-71595045
GAintronicDe novo--Yuen2017 G
COL13A1     1-0511-003chr10:
71686557-71686557
GTintronicDe novo--Yuen2017 G
COL13A1     AU3808304chr10:
71740773-71740773
CTintergenicDe novo--Yuen2017 G
COL13A1     1-0445-003chr10:
71779203-71779203
TCintergenicDe novo--Yuen2017 G
COL13A1     AU1987302chr10:
71736945-71736945
TGintergenicDe novo--Yuen2017 G
COL13A1     JASD_Fam0034chr10:
71648062-71648063
TCTexonicDe novoframeshift deletionNM_080798
NM_080805
NM_001130103
NM_080800
NM_080801
NM_080802
c.412delC
c.439delC
c.526delC
c.526delC
c.526delC
c.526delC
p.P138fs
p.P147fs
p.P176fs
p.P176fs
p.P176fs
p.P176fs
--Takata2018 E
Source Variant Information

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Source:

Paper alias:

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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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