NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg) AND Hereditary hyperinsulinism
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 16, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001272245.8
Allele description [Variation Report for NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg)]
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg)
Condition(s)
- Name:
- Hereditary hyperinsulinism
- Identifiers:
-
RecName: Full=Cadherin EGF LAG seven-pass G-type receptor 1; AltName: Full=Cadhe...
RecName: Full=Cadherin EGF LAG seven-pass G-type receptor 1; AltName: Full=Cadherin family member 9; AltName: Full=Flamingo homolog 2; Short=hFmi2; Flags: Precursorgi|22095551|sp|Q9NYQ6.1|CELR1_HUMANProtein
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Last Updated: Aug 18, 2024