PMID: 25306193

Alkorta-Aranburu G, Carmody D, Cheng YW, Nelakuditi V, Ma L, Dickens JT, Das S, Greeley SA, del Gaudio D
Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.
Mol Genet Metab. 2014 Dec;113(4):315-20. doi: 10.1016/j.ymgme.2014.09.007. Epub 2014 Sep 28., [PubMed]
Sentences
No. Mutations Sentence Comment
57 ABCC8 p.Arg1379Cys
X
ABCC8 p.Arg1379Cys 25306193:57:98
status: NEW
view ABCC8 p.Arg1379Cys details
ABCC8 p.Leu1147Arg
X
ABCC8 p.Leu1147Arg 25306193:57:84
status: NEW
view ABCC8 p.Leu1147Arg details
 Patient Gender Gene Nucleotide Amino acid Zygosity 1 M ABCC8 c.3440TNG, c.4135CNT p.Leu1147Arg, p.Arg1379Cys Comp HET 2 M EIF2AK3 c.1267dup p.Ile423Asnfs*26 HOMO 3 M GATA6 c.1088_1098del p.Gln363Argfs*96 HET 4 F KCNJ11 c.602GNA p.Arg201His HET 5 F KCNJ11 c.5TNC p.Leu2Pro HET 6 M RFX6 c.779ANC p.Lys260Thr HOMO 7 F FOXP3 c.1044+5GNA p.? Login to comment 133 ABCC8 p.Phe1392Val
X
ABCC8 p.Phe1392Val 25306193:133:4
status: NEW
view ABCC8 p.Phe1392Val details
 ; p.Phe1392Val HET; HET 6 months Insulina 1 25 M H EIF2AK3 NM_004836 c.2758CNTb p.Gln920* HOMO 3 months Insulin 1 26 M H GCK NM_000162.3 c.706GNA p.Glu236Lys HOMO Birth Insulin 1 27 M W HNF1A NM_000545.5 c.391CNT p.Arg131Trp HET 10 years Insulina 1 28 M W HNF1A NM_000545.5 c.586ANG p.Thr196Ala HET 3 years None 3 29 F W GCK NM_000162.3 c.863+1GNAb p.? Login to comment