NM_000352.6(ABCC8):c.794G>A (p.Arg265Gln) AND Hereditary hyperinsulinism
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 28, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001834712.1
Allele description [Variation Report for NM_000352.6(ABCC8):c.794G>A (p.Arg265Gln)]
NM_000352.6(ABCC8):c.794G>A (p.Arg265Gln)
Condition(s)
- Name:
- Hereditary hyperinsulinism
- Identifiers:
-
Concise Conserved Domain Links for Protein (Select 218505805) (1)
Conserved Domains
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Last Updated: Sep 29, 2024