NM_005461.5(MAFB):c.185C>T (p.Thr62Ile) AND Multicentric carpo-tarsal osteolysis with or without nephropathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000990302.1
Allele description [Variation Report for NM_005461.5(MAFB):c.185C>T (p.Thr62Ile)]
NM_005461.5(MAFB):c.185C>T (p.Thr62Ile)
Condition(s)
- Name:
- Multicentric carpo-tarsal osteolysis with or without nephropathy
- Synonyms:
- MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME; MULTICENTRIC OSTEOLYSIS, AUTOSOMAL DOMINANT; Multicentric osteolysis nephropathy; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008152; MedGen: C2674705; Orphanet: 2774; OMIM: 166300
Assertion and evidence details
Last Updated: Apr 23, 2022