NM_170707.4(LMNA):c.688G>A (p.Asp230Asn) AND Familial partial lipodystrophy, Dunnigan type
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 1, 2007
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000015615.29
Allele description [Variation Report for NM_170707.4(LMNA):c.688G>A (p.Asp230Asn)]
NM_170707.4(LMNA):c.688G>A (p.Asp230Asn)
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: Nov 5, 2022