ABCC7 p.Gln250Arg
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PMID: 20510657
[PubMed]
Jambhekar SK et al: "Report of two patients with associated conditions in addition to cystic fibrosis."
No.
Sentence
Comment
65
Her mother's CFTR DNA showed L467P; Q250R, confirming that the patient's two mutations are on different chromosomes, confirming the diagnosis of cystic fibrosis.
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ABCC7 p.Gln250Arg 20510657:65:36
status: NEW68 This suggests that the Q250R, another novel variant which has not been seen in over 25,000 patients tested at Ambry (personal communication), is not disease causing or is associated with mild CF disease that has not yet become symptomatic.
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ABCC7 p.Gln250Arg 20510657:68:23
status: NEW