NM_000162.5(GCK):c.1139A>C (p.His380Pro) AND Maturity-onset diabetes of the young type 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 17, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003388013.1
Allele description [Variation Report for NM_000162.5(GCK):c.1139A>C (p.His380Pro)]
NM_000162.5(GCK):c.1139A>C (p.His380Pro)
Condition(s)
- Name:
- Maturity-onset diabetes of the young type 2
- Synonyms:
- MODY type 2; Diabetes mellitus MODY type 2; MODY glucokinase-related; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007453; MedGen: C0342277; Orphanet: 552; OMIM: 125851
-
ST8SIA3 [Zonotrichia albicollis]
ST8SIA3 [Zonotrichia albicollis]Gene ID:102060593Gene
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See more...Assertion and evidence details
Last Updated: Aug 25, 2024