ABCC8 p.His401Tyr
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PMID: 21981029
[PubMed]
Rubio-Cabezas O et al: "KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life."
No.
Sentence
Comment
54
In addition, three novel heterozygous ABCC8 missense variants of uncertain significance were identified in three patients with isolated diabetes; H401Y (c.1201C>T) in a male diagnosed at 8 months, F169V(c.505T>G)in a female diagnosed at10 months, and H817R (c.2450A>G) in a female who presented at 12 months.
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ABCC8 p.His401Tyr 21981029:54:146
status: NEW55 The H401Y and F169V variants were inherited from an unaffected parent (mother and father, respectively) and are therefore unlikely to be causative.
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ABCC8 p.His401Tyr 21981029:55:4
status: NEW