NM_000133.4(F9):c.621T>C (p.Ala207=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001423739.7
Allele description [Variation Report for NM_000133.4(F9):c.621T>C (p.Ala207=)]
NM_000133.4(F9):c.621T>C (p.Ala207=)
Condition(s)
- Name:
- Hereditary factor IX deficiency disease (HEMB)
- Synonyms:
- F9 DEFICIENCY; PLASMA THROMBOPLASTIN COMPONENT DEFICIENCY; Hemophilia B; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010604; MeSH: D002836; MedGen: C0008533; Orphanet: 98879; OMIM: 306900
Assertion and evidence details
Last Updated: Sep 29, 2024