A109T (p.Ala109Thr) variant of F11 (Coagulation factor XI)
A109T (p.Ala109Thr) in F11 (Coagulation factor XI) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Plasma factor XI deficiency; not provided; Hereditary factor XI deficiency disea. The record also includes population frequency data, published literature, and structural context.
A109T (p.Ala109Thr) variant details
- p.Ala109Thr
- rs768474112
- ClinGen CA199066
- NCI-TCGA Cosmic COSV9925
- cosmic curated COSV99251
- Pathogenic
- Plasma factor XI deficiency; not provided; Hereditary factor XI deficiency disea
- Missense
- ClinVar: Pathogenic (Plasma factor XI deficiency; not provided; Hereditary factor XI)
- EBI: Pathogenic (in FA11D)
- UniProt: Pathogenic (in FA11D)
- Population evidence available
- Structural context available
- Cited in: Molecular basis and bleeding manifestations of factor XI deficiency in 11 Turkish families. (PMID 25158988)
- Cited in: Identification of a novel mutation in a non-Jewish factor XI deficient kindred. (PMID 10027710)