NM_000352.6(ABCC8):c.4199-6A>G AND Maturity onset diabetes mellitus in young
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002245799.2
Allele description [Variation Report for NM_000352.6(ABCC8):c.4199-6A>G]
NM_000352.6(ABCC8):c.4199-6A>G
Condition(s)
- Name:
- Maturity onset diabetes mellitus in young (MODY)
- Synonyms:
- Mason type diabetes
- Identifiers:
- MONDO: MONDO:0018911; MedGen: C0342276; Orphanet: 552; OMIM: 606391; Human Phenotype Ontology: HP:0004904
-
Chain T, 30S RIBOSOMAL PROTEIN S20
Chain T, 30S RIBOSOMAL PROTEIN S20gi|307776631|pdb|3OTO|TProtein
-
Chain H, 30S RIBOSOMAL PROTEIN S8
Chain H, 30S RIBOSOMAL PROTEIN S8gi|307776619|pdb|3OTO|HProtein
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Last Updated: Sep 29, 2024