NM_000162.5(GCK):c.1024A>C (p.Thr342Pro) AND Hyperinsulinism due to glucokinase deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001159192.6
Allele description [Variation Report for NM_000162.5(GCK):c.1024A>C (p.Thr342Pro)]
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro)
Condition(s)
-
NUT family member 2F [Homo sapiens]
NUT family member 2F [Homo sapiens]gi|148806874|ref|NP_060031.1|Protein
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Last Updated: Jul 29, 2024