NM_000129.4(F13A1):c.1346G>C (p.Gly449Ala) AND Factor XIII, A subunit, deficiency of
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001420446.2
Allele description [Variation Report for NM_000129.4(F13A1):c.1346G>C (p.Gly449Ala)]
NM_000129.4(F13A1):c.1346G>C (p.Gly449Ala)
Condition(s)
- Name:
- Factor XIII, A subunit, deficiency of
- Synonyms:
- Factor XIII subunit A deficiency
- Identifiers:
- MONDO: MONDO:0013187; MedGen: C2750514; Orphanet: 331; OMIM: 613225; Human Phenotype Ontology: HP:0040233
Assertion and evidence details
Last Updated: Dec 24, 2023