NM_000162.5(GCK):c.544G>A (p.Val182Met) AND Maturity-onset diabetes of the young type 2
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Aug 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001248908.8
Allele description [Variation Report for NM_000162.5(GCK):c.544G>A (p.Val182Met)]
NM_000162.5(GCK):c.544G>A (p.Val182Met)
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
-
LOC129993377 [Homo sapiens]
LOC129993377 [Homo sapiens]Gene ID:129993377Gene
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See more...Assertion and evidence details
Last Updated: Jul 29, 2024