NM_000143.4(FH):c.1084G>A (p.Glu362Lys) AND Hereditary leiomyomatosis and renal cell cancer
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003455187.1
Allele description [Variation Report for NM_000143.4(FH):c.1084G>A (p.Glu362Lys)]
NM_000143.4(FH):c.1084G>A (p.Glu362Lys)
Condition(s)
- Name:
- Hereditary leiomyomatosis and renal cell cancer
- Synonyms:
- Reed syndrome; Multiple cutaneous and uterine leiomyomatosis; Cutaneous leiomyomata with uterine leiomyomata; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007888; MedGen: C1708350; Orphanet: 523; OMIM: 150800; Human Phenotype Ontology: HP:0007437
Assertion and evidence details
Last Updated: Aug 18, 2024