NM_001994.3(F13B):c.1670A>G (p.His557Arg) AND Factor XIII, b subunit, deficiency of
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000303774.5
Allele description [Variation Report for NM_001994.3(F13B):c.1670A>G (p.His557Arg)]
NM_001994.3(F13B):c.1670A>G (p.His557Arg)
Condition(s)
- Name:
- Factor XIII, b subunit, deficiency of
- Synonyms:
- Factor XIII subunit B deficiency
- Identifiers:
- MONDO: MONDO:0013190; MedGen: C2750481; Orphanet: 331; OMIM: 613235; Human Phenotype Ontology: HP:0040234
Assertion and evidence details
Last Updated: Apr 9, 2023