Variant Results

or

or

Results for "COL2A1"

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

COL2A1

Li2017:39

chr12:
48372516-48372516

G

T

exonic

Unknown

nonsynonymous SNV

NM_033150
NM_001844

c.C2552A
c.C2759A

p.P851H
p.P920H

21.5

-

Li2017 T

COL2A1

Li2017:18921

chr12:
48372516-48372516

G

T

exonic

Unknown

nonsynonymous SNV

NM_033150
NM_001844

c.C2552A
c.C2759A

p.P851H
p.P920H

21.5

-

Li2017 T

COL2A1

11571.p1

chr12:
48389108-48389108

A

G

intronic

De novo

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E

COL2A1

Li2017:16076

chr12:
48369150-48369150

G

A

exonic

Unknown

nonsynonymous SNV

NM_033150
NM_001844

c.C3629T
c.C3836T

p.P1210L
p.P1279L

20.9

-

Li2017 T

COL2A1

1-0253-005

chr12:
48368041-48368041

G

A

exonic

De novo

nonsynonymous SNV

NM_033150
NM_001844

c.C3941T
c.C4148T

p.T1314M
p.T1383M

17.24

Yuen2017 G

COL2A1

1-0826-004

chr12:
48387070-48387073

ATGT

A

intronic

De novo

-

-

Yuen2017 G

COL2A1

Li2017:23681

chr12:
48387806-48387806

G

T

exonic

Unknown

nonsynonymous SNV

NM_033150
NM_001844

c.C634A
c.C841A

p.P212T
p.P281T

19.09

Li2017 T

COL2A1

AU3648301

chr12:
48371203-48371203

C

T

exonic

De novo

nonsynonymous SNV

NM_033150
NM_001844

c.G2966A
c.G3173A

p.R989H
p.R1058H

22.8

Yuen2017 G

COL2A1

13775.p1

chr12:
48391605-48391605

G

A

intronic

De novo

-

-

Satterstrom2020 E

COL2A1

G01-GEA-50-HI

chr12:
48378413-48378413

C

T

intronic

De novo

-

Satterstrom2020 E

COL2A1

AGG0052

chr12:
48376658-48376658

G

A

exonic

De novo

synonymous SNV

NM_033150
NM_001844

c.C1959T
c.C2166T

p.P653P
p.P722P

-

Satterstrom2020 E

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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