Variant Results

or

Results for "COL13A1"

Variant Events: 12

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

60-2027

chr10:
71650267-71650267

C

A

intronic

Inherited

-

Michaelson2012 G

COL13A1

1-0225-003

chr10:
71760648-71760648

A

T

intergenic

De novo

-

Yuen2017 G

COL13A1

5-0055-004

chr10:
71729367-71729367

G

A

intergenic

De novo

-

Yuen2017 G

COL13A1

2-1497-003

chr10:
71595045-71595045

G

A

intronic

De novo

-

Yuen2017 G

COL13A1

SP0027284

chr10:
71562250-71562250

G

A

exonic

De novo

nonsynonymous SNV

NM_001130103
NM_080798
NM_080800
NM_080801
NM_080802
NM_080805

c.G71A
c.G71A
c.G71A
c.G71A
c.G71A
c.G71A

p.G24E
p.G24E
p.G24E
p.G24E
p.G24E
p.G24E

11.78

-

Fu2022 E

COL13A1

AU3808304

chr10:
71740773-71740773

C

T

intergenic

De novo

-

Yuen2017 G

COL13A1

AU1987302

chr10:
71736945-71736945

T

G

intergenic

De novo

-

Yuen2017 G

COL13A1

JASD_Fam0034

chr10:
71648062-71648063

TC

T

exonic

De novo

frameshift deletion

NM_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

COL13A1

2-0116-004

chr10:
71735244-71735246

ATT

A

intergenic

De novo

-

Yuen2017 G

COL13A1

AU2792301

chr10:
71793630-71793630

C

A

intergenic

De novo

-

Yuen2017 G

COL13A1

1-0511-003

chr10:
71686557-71686557

G

T

intronic

De novo

-

Yuen2017 G

COL13A1

1-0445-003

chr10:
71779203-71779203

T

C

intergenic

De novo

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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