ABCMdb

ABCC8 p.Ser1500Arg

None has been submitted yet.

Publications

PMID: 25048417 [PubMed] Artuso R et al: "Therapeutic implications of novel mutations of the RFX6 gene associated with early-onset diabetes."

No. Sentence Comment

105 Variants identified in patients Patient Total variants Rs (SNPs) Rs OMIM associated Parents Rare variants Mother Father Case #1 578 136 rs5219 (KCNJ11 c.67G4A p.Glu23Lys) rs1169288 (HNF1A c.79A4C p.Ile27Leu) rs1169305 (HNF1A c.1720A4G p.Ser574Gly) rs1260326 (GCKR c.1403C4T p.Pro446Leu) rs5219 rs1169288 rs1169305 rs1260326 rs5219 rs1169288 rs1169305 rs1260326 RFX6 (c.1678G4A p.Asp560Asn) WFS1 (c.2054G4A p.Arg685His) both inherited from the mother Case #2 1032 182 rs5219 (KCNJ11 c.67G4A p.Glu23Lys) rs1169288 (HNF1A c.79A4C p.Ile27Leu) rs1169305 (HNF1A c.1720A4G p.Ser574Gly) NA NA RFX6 (c.1865C4A p.Thr622Lys) Case #3 614 135 rs5219 (KCNJ11 c.67G4A p.Glu23Lys) rs1169288 (HNF1A c.79A4C p.Ile27Leu) rs1169305 (HNF1A c.1720A4G p.Ser574Gly) rs1260326 (GCKR c.1403C4T p.Pro446Leu) rs3856806 (PPARG c.1347C4 T p.His449His) rs100010131 (WFS1 IVS4-9G4A) rs5219 rs1169288 rs1169305 rs1260326 rs100010131 rs5219 rs1169288 rs1169305 rs1260326 rs3856806 rs100010131 RFX6 (c.1558A4T p.Ser520Thr) inherited from the mother ABCC8 (c.4500C4A p.Ser1500Arg) inherited from the father Abbreviations: NA, not available; SNP, single-nucleotide polymorphisms. Login to comment