ABCMdb

PMID: 25555642

Bennett JT, Vasta V, Zhang M, Narayanan J, Gerrits P, Hahn SH
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.
Mol Genet Metab. 2015 Mar;114(3):451-8. doi: 10.1016/j.ymgme.2014.12.304. Epub 2014 Dec 20., [PubMed]

Sentences

No. Mutations Sentence Comment

120 ABCC8 p.Ala478Asp ABCC8 p.Arg1182Gln ABCC8 p.Glu1326Lys ABCC8 p.Phe536Leu ABCC8 p.Gln808Lys ABCC8 p.Arg836* ABCC8 p.Asn426Ser 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.? Login to comment 121 ABCC8 p.Arg1436Gln ABCC8 p.Thr1515Ala ABCC8 p.Arg1379Ser "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.? Login to comment 145 ABCC8 p.Glu268Lys ABCC8 p.Arg191Gln 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). Login to comment