ABCC7 p.Thr1036Asn
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PMID: 16189704
[PubMed]
McGinniss MJ et al: "Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples."
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Sentence
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7
We ascertained ten novel sequence variants that are potentially disease-associated: two deletions (c.1641AG>T, c.2949_2853delTACTC), seven missense mutations (p.S158T, p.G451V, p.K481E, p.C491S, p.H949L, p.T1036N, p.F1099L), and one complex allele ([p.356_A357del; p.358I]).
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ABCC7 p.Thr1036Asn 16189704:7:206
status: NEW52 Novel variant CFTR alleles were ascertained in three patients, including c.1641 AG>T, p.G451V, and p.T1036N; these are described below in detail.
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ABCC7 p.Thr1036Asn 16189704:52:101
status: NEW74 DF508/c.546insCTA CF; lung symptoms; PS; 2 sibs with CF NG Pos p.R1066C/c.3272-26 A>G Mild CF 40 115 [p.V562I;p.A1006E]b /p.R1158X CF, FTT 6 Not done DF508/c.1716G>A Classic CF 21 Not done p.R785X/c.2732insA Classic CF, PI 4 Not done DF508/p.R117C Classic CF 2 Not done DF508/p.R75X CF 19 Pos DF508/p.G451Va Mild CF 23 Pos DF508/p.L206W Classic CF 9 150s DF508/p.G542Xc Classic CF 15 Pos p.T1036N/p.T1036Na CF, PS 9 Pos DF508/c.3272-26 A>G Classic CF 33 Not done DF508/p.R117Hc Classic CF 35 Not done DF508/p.A455Ec CF 3 Pos p.G551D/p.Y275X a Novel CFTR variant b Complex CFTR allele c Both mutations are on the ACMG/ACOG panel Table 5 Diagnosis of CF in infants/newborns with abnormal newborn screening results Patient number Genotype Age at sequencing Sex Newborn screen result Sweat chloride concentration (mmol/l)a Phenotype 1 DF508/c.2789+2insA 3 months F Positive sweat test 88,96,89,84 Dx of CF, being treated prophylactically 2 DF508/c.2949del5b 3 months F IRT positive 105 Dx of CF 3 p.G551D/c.1259insA 14 months M Positive sweat test ?
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ABCC7 p.Thr1036Asn 16189704:74:390
status: NEW
In reference to DF508 and 1716G>A. Does this mean these two mutation have resulted in "classic CF"? Does this mean 1716G>A is disease causing?
Gibson75 on 2013-08-12 07:00:25
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Gibson75 on 2013-08-12 07:00:25
81 Of the seven novel missense mutations ascertained, we expect that three (p.G451V, p.T1036N, and p.F1099L) are disease-associated mutations.
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ABCC7 p.Thr1036Asn 16189704:81:84
status: NEW83 The p.T1036N missense mutation in exon 17 is expected to be disease-associated since it was found in a 14-year-old male Hispanic with classic CF.
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ABCC7 p.Thr1036Asn 16189704:83:6
status: NEW84 Homozygosity for p.T1036N in this patient was confirmed by sequencing DNA from parental blood samples; each parent was a heterozygous carrier.
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ABCC7 p.Thr1036Asn 16189704:84:19
status: NEW