ABCC7 p.Asn1224Lys
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PMID: 19833837
[PubMed]
Oca F et al: "Amniotic fluid digestive enzyme analysis is useful for identifying CFTR gene mutations of unclear significance."
No.
Sentence
Comment
10
Of the 5 questionable cases (F508del/N1224K, F508del/L73F, 3849ϩ10kbCϾ T/G1127E, F508del/S1235R, F508del/G622D), all were CF symptom free at 2-4 years of follow-up.
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ABCC7 p.Asn1224Lys 19833837:10:37
status: NEW78 In 3 cases (N1224K, L73F, and G1127E), the AF-DE pattern was typical.
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ABCC7 p.Asn1224Lys 19833837:78:12
status: NEW80 F508del was in trans of N1224K and L73F, and the variable CF-causing 3849ϩ10KbCϾT was in trans of G1127E (16).
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ABCC7 p.Asn1224Lys 19833837:80:24
status: NEW89 CFTR mutation Cases, n Outcome/follow-up CF/CF mutation (n ϭ 38) F508del/F508del 21 TOPa (n ϭ 20); birth, severe CF (n ϭ 1) F508del/unidentified severe mutationb 3 TOP (n ϭ 3) F508del/G551D 2 TOP (n ϭ 2) F508del/4005ϩ1GϾA 1 TOP F508del/2711delT 1 Birth, severe CF F508del/297-3CϾT 1 TOP F508del/3120ϩ1GϾA 1 TOP F508del/405ϩ1GϾA 1 TOP F508del/711ϩ1GϾT 1 TOP F508del/Q1042X 1 TOP F508del/dele22-23 1 TOP F508del/2789ϩ5GϾA 1 Birth, severe CF dele19/dele19c 1 Birth, severe CF W1282X/dele2-6b 1 TOP 1078delT/394delTT 1 TOP CF/unknown variant (n ϭ 4) F508del/G622D 1 Birth, no clinical sign of CF F508del/N1224K 1 Birth, no clinical sign of CF F508del/L73F 1 Birth, no clinical sign of CF 3849ϩ10kbCϾT/G1127E 1 Birth, no clinical sign of CF CF/CFTR-related disorder (n ϭ 1) F508del/S1235R 1 Birth, no clinical sign of CF (del22q11 ϩ imperforate anus)d a TOP, termination of pregnancy.
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ABCC7 p.Asn1224Lys 19833837:89:702
status: NEW