ABCMdb

ABCC8 p.Leu511Met

None has been submitted yet.

Publications

PMID: 20685672 [PubMed] Bellanne-Chantelot C et al: "ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism."

No. Sentence Comment

104 1 DPET htzP Flanagan et al, 200817 ABCC8 Exon 8 c.1177-?_1332+?del p.Thr393_Gln444del52 1 DH c-htz This report ABCC8 Exon 8 c.1331A/G p.Gln444Arg 1 FH Damaj et al, 200845 ABCC8 Exon 10 c.1508T/C p.Leu503Pro 1 FH Flanagan et al, 200817 ABCC8 Exon 10 c.1531C/A p.Leu511Met 2 DH htz, htznovo This report ABCC8 Intron 10 c.1630+1G/T p.? Login to comment
107 1 DH c-htz This report ABCC8 Exon 16 c.2124_2127delGACT p.Thr709X 1 FH This report ABCC8 Exon 16 c.2147G/A p.Gly716Asp 1 DPET htzm This report ABCC8 Exon 16 c.2153delG p.Gly718fs 1 DH htzP This report ABCC8 Exon 20 c.2425C/T p.Gln809X 1 DH c-htz Damaj et al, 200845 ABCC8 Exon 20 c.2473G/A p.Glu825Lys 1 DPET htzP This report ABCC8 Exon 22 c.2560-?_2697+?del p.Asp854_Trp899del46 1 DH c-htz This report ABCC8 Exon 22 c.2581G/C p.Asp861His 1 DPVS c-htz This report ABCC8 Exon 22 c.2669A/C p.Lys890Thr 1 DH htzP Flanagan et al, 200817 ABCC8 Exon 22 c.2672T/C p.Leu891Pro 1 DH htznovo This report ABCC8 Exon 23 c.2702T/C p.Ile901Thr 2 DH, DPET c-htz This report ABCC8 Exon 23 c.2784G/A p.Trp928X 1 FH This report ABCC8 Exon 23 c.2803C/T p.Gln935X 1 DPET c-htz This report ABCC8 Exon 24 c.2860C/T p.Gln954X 1 FH Flanagan et al, 200817 ABCC8 Intron 24 c.2924-9G/A p.? Login to comment