ABCC8 p.His36Arg
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PMID: 21378087
[PubMed]
Banerjee I et al: "The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism."
No.
Sentence
Comment
63
Patient Gene Mutation (nucleotide) Mutation (protein) Inheritance Response to diazoxide #1 ABCC8 Exon 1 c.107AOG p.His36Arg Compound heterozygote: maternal and paternal U #2 ABCC8 Exon 1 c.11COT p.Ala4Val Presumed paternal compound heterozygote U #3 ABCC8 Exon 2 c.208GOA p.Gly70Arg Compound heterozygote: maternal and paternal U #4 ABCC8 Exon 37 c.4547COT p.Thr1516Met Heterozygous maternal R #5 ABCC8 Exon 34 c.4169TOG p.Leu1390Arg De novo R #6 ABCC8 Exon 10 Exon 33 c.1562GOC and c.4079COT p.Arg521Pro p.Pro1360Leu Compound heterozygote: maternal and paternal U #7 ABCC8 Exon 21 c.2525GOA p.Arg842Gln Paternal heterozygote U #8 ABCC8 Intron 9 c.1467C5GOA p.?
X
ABCC8 p.His36Arg 21378087:63:115
status: NEW