NM_000162.5(GCK):c.1136C>A (p.Ala379Glu) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 16, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001642240.10
Allele description [Variation Report for NM_000162.5(GCK):c.1136C>A (p.Ala379Glu)]
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Aug 25, 2024