NM_000821.7(GGCX):c.137C>T (p.Ser46Phe) AND Vitamin K-dependent clotting factors, combined deficiency of, type 1
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000348551.5
Allele description [Variation Report for NM_000821.7(GGCX):c.137C>T (p.Ser46Phe)]
NM_000821.7(GGCX):c.137C>T (p.Ser46Phe)
Condition(s)
- Name:
- Vitamin K-dependent clotting factors, combined deficiency of, type 1
- Synonyms:
- FACTORS II, VII, IX, AND X, COMBINED DEFICIENCY OF; FAMILIAL MULTIPLE COAGULATION FACTOR DEFICIENCY III; FMFD III; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010187; MedGen: C1848534; Orphanet: 98434; OMIM: 277450
Assertion and evidence details
Last Updated: Apr 9, 2023