or
or
Exact

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     Li2017:39chr12:
48372516-48372516
GTexonicUnknownnonsynonymous SNVNM_033150
NM_001844
c.C2552A
c.C2759A
p.P851H
p.P920H
21.5-Li2017 T
COL2A1     Li2017:18921chr12:
48372516-48372516
GTexonicUnknownnonsynonymous SNVNM_033150
NM_001844
c.C2552A
c.C2759A
p.P851H
p.P920H
21.5-Li2017 T
COL2A1     11571.p1chr12:
48389108-48389108
AGintronicDe novo-8.24E-6Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
COL2A1     Li2017:16076chr12:
48369150-48369150
GAexonicUnknownnonsynonymous SNVNM_033150
NM_001844
c.C3629T
c.C3836T
p.P1210L
p.P1279L
20.9-Li2017 T
COL2A1     1-0253-005chr12:
48368041-48368041
GAexonicDe novononsynonymous SNVNM_033150
NM_001844
c.C3941T
c.C4148T
p.T1314M
p.T1383M
17.242.0E-4Yuen2017 G
COL2A1     1-0826-004chr12:
48387070-48387073
ATGTAintronicDe novo--Yuen2017 G
COL2A1     Li2017:23681chr12:
48387806-48387806
GTexonicUnknownnonsynonymous SNVNM_033150
NM_001844
c.C634A
c.C841A
p.P212T
p.P281T
19.098.283E-6Li2017 T
COL2A1     AU3648301chr12:
48371203-48371203
CTexonicDe novononsynonymous SNVNM_033150
NM_001844
c.G2966A
c.G3173A
p.R989H
p.R1058H
22.88.308E-6Yuen2017 G
COL2A1     13775.p1chr12:
48391605-48391605
GAintronicDe novo--Satterstrom2020 E
COL2A1     G01-GEA-50-HIchr12:
48378413-48378413
CTintronicDe novo-5.059E-5Satterstrom2020 E
COL2A1     AGG0052chr12:
48376658-48376658
GAexonicDe novosynonymous SNVNM_033150
NM_001844
c.C1959T
c.C2166T
p.P653P
p.P722P
-2.524E-5Satterstrom2020 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 notesView
More