ABCC7 p.Asp1270His
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PMID: 11115444
[PubMed]
Desmarquest P et al: "Genotype analysis and phenotypic manifestations of children with intermediate sweat chloride test results."
No.
Sentence
Comment
82
Patient 3 was heterozygous for the mutations R75X and D1270H; however, the familial analysis revealed that the mutations R75X and D1270H were both carried by the paternal allele.
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ABCC7 p.Asp1270His 11115444:82:54
status: NEWX
ABCC7 p.Asp1270His 11115444:82:130
status: NEW92 Genotype Poly T 1 -/- 7T/7T 2 R117C/- 7T/7T 3 R75X-D1270H/- 7T/7T 4 -/- 7T/7T 5 G91R/- 7T/5T 6 ⌬F508/- 7T/9T 7 -/- 7T/7T 8 -/- 7T/7T 9 S1235R/G551D 5T/7T 10 ⌬F508/- 9T/9T 11 7T/7T 12 ⌬F508/⌬F508 9T/9T 13 ⌬F508/- 7T/9T 14 -/- 7T/7T 15 ⌬F508/- 7T/9T 16 -/- 7T/5T 17 -/- 7T/7T 18 -/- 7T/7T 19 -/- 7T/9T 20 ⌬F508/- 7T/9T 21 -/- 7T/7T 22 W1282X/- 7T/5T 23 -/- 7T/7T 24 ⌬F508/3849 ϩ 10 kb C 3 T 7T/7T 1594 Clinical Investigations reported in the general population (frequency of the 5T allele in the general population, 5.2%).26 Based on the results of DNA analysis and according to the consensus statement on the diagnosis of CF, three patients (patients 9, 12, and 24) met the criteria of both respiratory manifestations and identification of two CF mutations.21 For patient 6, there was a diagnostic dilemma.
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ABCC7 p.Asp1270His 11115444:92:51
status: NEW98 Results indicated that 15 (of 48) chromosomes had a known mutation in CFTR gene, with 1 chromosome bearing two mutations (R75X and D1270H).
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ABCC7 p.Asp1270His 11115444:98:131
status: NEW
PMID: 7539210
[PubMed]
Rave-Harel N et al: "CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens."
No.
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Comment
41
1992b); and D1270H (Anguiano et al. 1992).
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ABCC7 p.Asp1270His 7539210:41:12
status: NEW42 The R117H mutation (Dean et al.
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ABCC7 p.Asp1270His 7539210:42:12
status: NEW60 In addition, the mutations R117H and D1270H, previously found in CBAVD patients from other populations (Anguiano et al. 1992), were analyzed.
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ABCC7 p.Asp1270His 7539210:60:37
status: NEW61 In addition, the mutations R117H and D1270H, previously found in CBAVD patients from other populations (Anguiano et al. 1992), were analyzed.
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ABCC7 p.Asp1270His 7539210:61:37
status: NEW