NM_000162.5(GCK):c.1150G>A (p.Ala384Thr) AND Maturity onset diabetes mellitus in young
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Sep 28, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002348865.4
Allele description [Variation Report for NM_000162.5(GCK):c.1150G>A (p.Ala384Thr)]
NM_000162.5(GCK):c.1150G>A (p.Ala384Thr)
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
-
transcription elongation factor A protein-like 3 [Homo sapiens]
transcription elongation factor A protein-like 3 [Homo sapiens]gi|55749431|ref|NP_001006934.1|Protein
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Last Updated: May 1, 2024