NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) AND Familial partial lipodystrophy, Dunnigan type
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001098189.5
Allele description [Variation Report for NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)]
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)
Condition(s)
- Name:
- Familial partial lipodystrophy, Dunnigan type
- Synonyms:
- Familial partial lipodystrophy 2; Lipodystrophy, familial, of limbs and lower trunk; Lipodystrophy, reverse partial; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007906; MedGen: C1720860; Orphanet: 2348; OMIM: 151660
Assertion and evidence details
Last Updated: Apr 15, 2024