Variant #0000805743 (NC_000012.11:g.48398036A>T, COL2A1(NM_001844.4):c.69T>A)

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.48398036A>T
DNA change (hg38) -
Published as COL2A1(NM_001844.4):c.69T>A (p.C23*)
ISCN -
DB-ID COL2A1_000733
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
COL2A1 NM_001844.4 +/. - c.69T>A r.(?) p.(Cys23*)