Variant #0000047126 (NC_000012.11:g.48393853C>T, COL2A1(NM_001844.4):c.141G>A)

Individual ID 00024337
Chromosome 12
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.48393853C>T
DNA change (hg38) g.48000070C>T
Published as 4246 G-A W47X (N-propeptide)
ISCN -
DB-ID COL2A1_000056
Variant remarks -
Reference PubMed: Richards 2000
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Isabelle Touitou
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL2A1 NM_001844.4 +/. 2 c.141G>A r.(?) p.(Trp47*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024329 DNA SEQ - - COL2A1 1 Isabelle Touitou