NM_000162.5(GCK):c.1157T>C (p.Leu386Pro) AND Monogenic diabetes
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 28, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004527298.1
Allele description [Variation Report for NM_000162.5(GCK):c.1157T>C (p.Leu386Pro)]
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro)
Condition(s)
- Name:
- Monogenic diabetes
- Identifiers:
- MONDO: MONDO:0015967; MedGen: C3888631
-
LGI1 leucine rich glioma inactivated 1 [Homo sapiens]
LGI1 leucine rich glioma inactivated 1 [Homo sapiens]Gene ID:9211Gene
-
9211[uid] AND (alive[prop]) (1)
Gene
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See more...Assertion and evidence details
Last Updated: May 7, 2024