Annotation Detail

Information
Associated Genes
COL2A1
Associated Variants
COL2A1 p.Gly405ValfsTer224 (p.G405Vfs*224) ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly405ValfsTer224 (p.G405Vfs*224) ( ENST00000337299.7, ENST00000380518.8 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_001844.5(COL2A1):c.1214del (p.Gly405fs) AND not provided
ClinVar Allele ID
192099
ClinVar RefSeq Alternation Syntax
NM_001844.5:c.1214del
ClinVar RefSeq Alternation Syntax
NM_033150.3:c.1007del
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2014-11-24
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000175420
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs