Variant #0000047449 (NC_000012.11:g.48393802G>T, COL2A1(NM_001844.4):c.192C>A)

Individual ID 00024658
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.48393802G>T
DNA change (hg38) g.48000019G>T
Published as -
ISCN -
DB-ID COL2A1_000175 See all 5 reported entries
Variant remarks -
Reference PubMed: Richards 2010
ClinVar ID -
dbSNP ID -
Origin Unknown
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 No license selected
Created by Isabelle Touitou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL2A1 NM_001844.4 +/. 2 c.192C>A r.(?) p.(Cys64*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024650 DNA SEQ - - COL2A1 1 Isabelle Touitou