NM_000162.5(GCK):c.1288C>T (p.Leu430=) AND Maturity-onset diabetes of the young type 2
Clinical significance:Likely benign (Last evaluated: Aug 18, 2011)
Review status:
- Based on:
- 1 submission [Details]
- Record status:
- current
- Accession:
- RCV000029856.3
Allele description [Variation Report for NM_000162.5(GCK):c.1288C>T (p.Leu430=)]
NM_000162.5(GCK):c.1288C>T (p.Leu430=)
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
Assertion and evidence details
Last Updated: Jun 24, 2022