Variant #0000047244 (NC_000012.11:g.48391489C>A, COL2A1(NM_001844.4):c.431G>T)

Individual ID 00024455
Chromosome 12
Allele Paternal (confirmed)
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.48391489C>A
DNA change (hg38) g.47997706C>A
Published as -
ISCN -
DB-ID COL2A1_000172
Variant remarks -
Reference PubMed: Richards 2007
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 +/. 7 c.431G>T r.(?) p.(Gly144Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000024447 DNA RT-PCR;SEQ - - COL2A1 1 Isabelle Touitou