NM_000525.4(KCNJ11):c.112A>G (p.Lys38Glu) AND Hyperinsulinemic hypoglycemia, familial, 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003228205.2
Allele description [Variation Report for NM_000525.4(KCNJ11):c.112A>G (p.Lys38Glu)]
NM_000525.4(KCNJ11):c.112A>G (p.Lys38Glu)
Condition(s)
-
glycosyltransferase family 24 protein [Thermothelomyces thermophilus ATCC 42464]
glycosyltransferase family 24 protein [Thermothelomyces thermophilus ATCC 42464]gi|347012776|gnl|jgi|MYCTH_2309354| O60260.1|Protein
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Last Updated: Aug 4, 2024