NM_000162.5(GCK):c.1174C>T (p.Arg392Cys) AND GCK-related disorder
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003420270.4
Allele description [Variation Report for NM_000162.5(GCK):c.1174C>T (p.Arg392Cys)]
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys)
Condition(s)
- Name:
- GCK-related disorder
- Synonyms:
- GCK-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 19, 2024