NM_000352.6(ABCC8):c.4369G>A (p.Ala1457Thr) AND Hyperinsulinemic hypoglycemia, familial, 1
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001376163.4
Allele description [Variation Report for NM_000352.6(ABCC8):c.4369G>A (p.Ala1457Thr)]
NM_000352.6(ABCC8):c.4369G>A (p.Ala1457Thr)
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
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Mus musculus, clone IMAGE:4166263, mRNA
Mus musculus, clone IMAGE:4166263, mRNAgi|25058450|gb|BC039948.1|Nucleotide
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Homo sapiens signal-regulatory protein alpha, mRNA (cDNA clone MGC:43149 IMAGE:5...
Homo sapiens signal-regulatory protein alpha, mRNA (cDNA clone MGC:43149 IMAGE:5261789), complete cdsgi|34192914|gb|BC038510.2|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024