NM_000352.6(ABCC8):c.206del (p.Pro69fs) AND Hyperinsulinemic hypoglycemia, familial, 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 3, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002309153.2
Allele description
NM_000352.6(ABCC8):c.206del (p.Pro69fs)
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: Dec 24, 2022