NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) AND Hyperinsulinemic hypoglycemia, familial, 1
- Germline classification:
- Likely benign (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:
- RCV000396751.8
Allele description [Variation Report for NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)]
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)
Condition(s)
- Name:
- Hyperinsulinemic hypoglycemia, familial, 1 (HHF1)
- Synonyms:
- HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS; HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY; NESIDIOBLASTOSIS OF PANCREAS; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009734; MedGen: C2931832; Orphanet: 276575; Orphanet: 276598; OMIM: 256450
Assertion and evidence details
Last Updated: Oct 13, 2024