NM_000208.4(INSR):c.3023G>C (p.Cys1008Ser) AND Insulin-resistant diabetes mellitus AND acanthosis nigricans
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 28, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001133115.4
Allele description [Variation Report for NM_000208.4(INSR):c.3023G>C (p.Cys1008Ser)]
NM_000208.4(INSR):c.3023G>C (p.Cys1008Ser)
Condition(s)
- Name:
- Insulin-resistant diabetes mellitus AND acanthosis nigricans
- Synonyms:
- DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS, TYPE A; INSULIN RECEPTOR, DEFECT IN, WITH INSULIN-RESISTANT DIABETES MELLITUS AND ACANTHOSIS NIGRICANS; IRAN, TYPE A; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012520; MedGen: C0342278; Orphanet: 2297; OMIM: 610549
Assertion and evidence details
Last Updated: Apr 9, 2023