ABCC8 p.Arg191Gln
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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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145
Nucleotide Protein Pheno dbSNP Times seen Interp. LOVD ClinVar Reference c.106CNT p.R36W MODY - 1 PATH PATH - [18] c.130GNA p.G44S MODY - 1 PATH VUS - [23] c.194CNT p.T65I NDM - 1 PATH - - [47] c.203GNA/c.892ANG p.G68D/p.M298V MODY rs373418736/- 1/1 VUS/PATH -/- -/- [23]/[21] c.241GNA p.G81S MODY - 1 PATH - - [23] c.349GNC p.G117R MODY - 1 VUS - - This report c.391TNC p.S131P MODY rs104894010 1 PATH - PATH [48] c.397TNC p.F133L MODY - 1 LP - - This report c.431TNC/c.460GNC p.L144P/p.V154L MODY -/- 1/1 VUS/PATH -/- -/- This report/this report c.533GNA p.G178E MODY - 1 PATH - - [49] c.544GNA p.V182M MODY - 1 PATH PATH - [50] c.556CNT p.R186* "Diabetes"* rs104894006 1 PATH PATH PATH [51] c.572GNA p.R191Q MODY - 1 PATH VUS - [52] c.601GNC p.A201P MODY 1 LP - - This report c.601GNT p.A201S MODY - 1 PATH - - [23] c.608TNC p.V203A MODY - 2 PATH - - [50] c.616ANC p.T206P MODY - 1 PATH - - [53] c.626CNT p.T209M MODY - 1 PATH - - [18] c.629TNC p.M210T MODY rs80356654 1 PATH PATH PATH [54] c.661GNA p.E221K MODY rs193922317 1 PATH - LP [55] c.667GNA p.G223S n.p. - 3 PATH - - [52] c.676GNA p.V226M MODY rs148311934 10 PATH PATH PATH [54] c.683CNT p.T228M MODY rs80356655 2 PATH - PATH [19] c.766GNA p.E256K MODY - 1 PATH PATH LP [56] c.781GNA p.G261R MODY rs104894008 3 PATH - PATH [19] c.787TNC p.S263P MODY rs193922331 3 PATH - LP [57] c.802GNA p.E268K MODY 1 PATH - - [23] c.871ANT p.K291* n.p. rs193922335 1 PATH - PATH ClinVar only c.883GNT p.G295C MODY - 1 LP - - This report c.891CNA p.Y297* n.p. - 1 PATH - - [58] c.917TNC p.L306P MODY rs193922337 1 LP - LP [23] c.951delC p.H317Qfs*36 MODY - 1 PATH - - This report c.971TNC p.L324P MODY rs193922341 1 PATH PATH LP [59] c.1007CNA p.S336* Diabetes - 1 PATH - - [23] c.1113CNA p.C371* n.p. - 1 PATH - - This report c.1142TNG p.M381R n.p. rs193922266 1 PATH - LP [24] c.1268TNC p.F423S "Fasting hyperglycemia"* - 1 LP - - This report c.1364TNA p.V455E MODY - 1 PATH PATH - [60] Variants identified in GCK are shown, along with phenotype, dbSNP number, clinical interpretation, and presence in two databases (LOVD and ClinVar).
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ABCC8 p.Arg191Gln 25555642:145:705
status: NEW