ABCC8 p.Arg836*
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PMID: 25555642
[PubMed]
Bennett JT et al: "Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism."
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Comment
120
Gene Nucleotide Protein Pheno dbSNP Times seen Interp. LOVD ClinVar Reference ABCC8 c.1277ANG/c.3545GNA p.N426S/p.R1182Q NDM -/rs193922400 1/2 VUS/PATH -/- -/LP This report/[9] c.1433CNA p.A478D CHI - 1 PATH - - [41] c.1608TNG p.F536L NDM - 1 LP - - This report c.2422CNA p.Q808K "DM1"* rs202189540 1 LB - - This report c.2506CNT/c.4138_4140delinsCA p.R836*/p.T1380Qfs*80 CHI rs72559722/- 1/1 PATH/PATH -/- -/- [42]/this report c.3976GNA p.E1326K CHI rs200563930 1 VUS - - [8] ex 32 del p.?
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ABCC8 p.Arg836* 25555642:120:352
status: NEW