NM_001994.3(F13B):c.675T>A (p.His225Gln) AND Factor XIII, b subunit, deficiency of
- 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:
- RCV001097931.4
Allele description [Variation Report for NM_001994.3(F13B):c.675T>A (p.His225Gln)]
NM_001994.3(F13B):c.675T>A (p.His225Gln)
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: Dec 24, 2023