NM_001083116.3(PRF1):c.666C>A (p.His222Gln) AND Familial hemophagocytic lymphohistiocytosis
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001844108.1
Allele description [Variation Report for NM_001083116.3(PRF1):c.666C>A (p.His222Gln)]
NM_001083116.3(PRF1):c.666C>A (p.His222Gln)
Condition(s)
- Name:
- Familial hemophagocytic lymphohistiocytosis (FHL)
- Synonyms:
- Hemophagocytic lymphohistiocytosis; Familial erythrophagocytic lymphohistiocytosis; Familial histiocytic reticulosis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015541; MedGen: C0272199; OMIM: PS267700
Assertion and evidence details
Last Updated: Oct 8, 2024