NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg) AND Type 2 diabetes mellitus
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003465494.1
Allele description [Variation Report for NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg)]
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg)
Condition(s)
- Name:
- Type 2 diabetes mellitus
- Synonyms:
- DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Type II diabetes mellitus; Diabetes mellitus, noninsulin-dependent, late onset
- Identifiers:
- MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978
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GEO Profiles
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Last Updated: Sep 29, 2024