Annotation Detail

Information
Associated Genes
CCND1
Associated Variants
CCND1 p.Pro241= (p.P241=) ( ENST00000536559.1, ENST00000227507.3 )
CCND1 p.Pro241= (p.P241=) ( ENST00000227507.3, ENST00000536559.1 )
Associated Disease
MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO
Source Database
ClinVar
Description
NM_053056.3(CCND1):c.723G>A (p.Pro241=) AND MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO
ClinVar Allele ID
28794
ClinVar RefSeq Alternation Syntax
NM_053056.3:c.723G>A
Clinical Significance Description
risk factor
Clinical Significance Last Update
2013-05-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV003329231
ClinVar Disease
MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO
Observed Origin Sample
germline
Pubmed
11459873
Pubmed
24870244
Pubmed
12097293
Pubmed
23502783
Pubmed
10667569
Drugs