ABCC8 p.Arg1379Ser
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PMID: 25555642
[PubMed]
Bennett JT et al: "Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism."
No.
Sentence
Comment
121
"Hypoglycemia"* - 1 PATH - - [15] c.4135CNA p.R1379S NDM rs137852673 1 PATH - PATH ClinVar c.4307GNA p.R1436Q n.p. rs387906407 2 PATH PATH PATH [43] c.4543ANG p.T1515A CHI - 1 LP - - This report KCNJ11 c.137ANG p.H46R NDM - 1 PATH - - [44] c.143ANT p.N48I NDM - 2 PATH - - [25] c.497GNA p.C166Y NDM rs80356618 1 PATH - PATH [45] c.601CNT p.R201C NDM rs80356625 1 PATH - PATH [17] c.602GNA p.R201H NDM rs80356624 1 PATH VUS - [45] c.616CNT p.R206C CHI - 1 LP - - This report c.637GNA p.A213T CHI - 1 PATH - - [46] c.685GNA p.E229K NDM - 1 PATH - - [30] c.691GNC/c.970GNA p.V231L/p.G324R NDM -/- 1/1 VUS/VUS -/- -/- This report/this report INS c.-331delC p.?
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ABCC8 p.Arg1379Ser 25555642:121:46
status: NEW