Annotation Detail

Information
Associated Genes
F13A1
Associated Variants
F13A1 p.Val35Leu (p.V35L) ( ENST00000264870.8 )
F13A1 p.Val35Leu (p.V35L) ( ENST00000264870.8 )
Associated Disease
Venous thrombosis, protection against
Source Database
ClinVar
Description
NM_000129.4(F13A1):c.103G>T (p.Val35Leu) AND Venous thrombosis, protection against
ClinVar Allele ID
31571
ClinVar RefSeq Alternation Syntax
NM_000129.4:c.103G>T
Clinical Significance Description
protective
Clinical Significance Last Update
2007-04-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000017997
ClinVar Disease
Venous thrombosis, protection against
Observed Origin Sample
germline
Pubmed
8025280
Pubmed
12072871
Pubmed
10910914
Pubmed
12456499
Pubmed
9459313
Pubmed
9550516
Pubmed
10365735
Pubmed
17393027
Drugs