NM_006412.4(AGPAT2):c.-51GGAGCG[2] AND Congenital generalized lipodystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000342411.6
Allele description [Variation Report for NM_006412.4(AGPAT2):c.-51GGAGCG[2]]
NM_006412.4(AGPAT2):c.-51GGAGCG[2]
Condition(s)
- Name:
- Congenital generalized lipodystrophy
- Synonyms:
- Congenital generalized lipodystrophy (disease)
- Identifiers:
- MONDO: MONDO:0006536; MedGen: C0221032; OMIM: PS608594; Human Phenotype Ontology: HP:0009059
Assertion and evidence details
Last Updated: Apr 9, 2023