Variant Results

or

or

Results for "COL21A1"

Variant Events: 20

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

COL21A1

iHART2553

chr6:
55929393-55929395

CCT

C

exonic

Paternal

frameshift deletion

NM_030820

c.2153_2154del

p.Q718fs

-

Ruzzo2019 G

COL21A1

3-0216-000

chr6:
56199910-56199910

T

C

intergenic

De novo

-

-

Yuen2017 G

COL21A1

iHART2554

chr6:
55929393-55929395

CCT

C

exonic

Paternal

frameshift deletion

NM_030820

c.2153_2154del

p.Q718fs

-

Ruzzo2019 G

COL21A1

AU056204

chr6:
56318993-56318993

T

C

intergenic

De novo

-

-

Yuen2017 G

COL21A1

2-1741-003

chr6:
56269818-56269818

T

C

intergenic

De novo

-

-

Yuen2017 G

COL21A1

iHART3018

chr6:
56044484-56044484

C

A

exonic

Paternal

stopgain

NM_030820

c.G532T

p.E178X

29.1

Ruzzo2019 G

COL21A1

1-0010-003

chr6:
56138966-56138966

C

G

intergenic

De novo

-

-

Yuen2017 G

COL21A1

7-0167-003

chr6:
55995774-55995774

G

C

intronic

De novo

-

-

Yuen2017 G

COL21A1

iHART2112

chr6:
55925808-55925808

G

A

exonic

Paternal

stopgain

NM_030820

c.C2233T

p.R745X

37.0

Ruzzo2019 G

COL21A1

iHART2111

chr6:
55925808-55925808

G

A

exonic

Paternal

stopgain

NM_030820

c.C2233T

p.R745X

37.0

Ruzzo2019 G

COL21A1

2-1502-003

chr6:
56135234-56135234

T

G

intergenic

De novo

-

-

Yuen2017 G

COL21A1

2-1428-003

chr6:
56319550-56319550

A

C

intergenic

De novo

-

-

Yuen2017 G

COL21A1

SP0018075

chr6:
55929393-55929395

CCT

C

exonic

De novo

frameshift deletion

NM_030820

c.2153_2154del

p.Q718fs

-

Feliciano2019 E

COL21A1

1-0756-004

chr6:
56136938-56136938

C

T

intergenic

De novo

-

-

Yuen2017 G

COL21A1

14637.p1

chr6:
56191534-56191534

G

A

intergenic

De novo

-

-

Turner2016 G

COL21A1

1-0190-003

chr6:
56107062-56107062

C

T

intronic

De novo

-

-

Yuen2017 G

COL21A1

3-0661-000

chr6:
56159103-56159103

A

C

intergenic

De novo

-

-

Yuen2017 G

COL21A1

13171.p1

chr6:
56231645-56231645

C

T

intergenic

De novo

-

-

Turner2016 G

COL21A1

12680.p1

chr6:
56263245-56263245

G

A

intergenic

De novo

-

-

Turner2016 G

COL21A1

1-0567-003

chr6:
56112939-56112939

C

A

upstream

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
	More