NM_000162.5(GCK):c.1163dup (p.Val389fs) AND Maturity onset diabetes mellitus in young
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002463671.1
Allele description [Variation Report for NM_000162.5(GCK):c.1163dup (p.Val389fs)]
NM_000162.5(GCK):c.1163dup (p.Val389fs)
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
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Homo sapiens APC, WNT signaling pathway regulator (APC), transcript variant 3, m...
Homo sapiens APC, WNT signaling pathway regulator (APC), transcript variant 3, mRNAgi|307133686|ref|NM_000038.5|Nucleotide
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Chain H, CarB
Chain H, CarBgi|75766087|pdb|2A7K|HProtein
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Last Updated: Dec 11, 2022