rs80034486
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The manifestation of CF in this family was not related to the common mutation delta F508, since this fetus was heterozygous for the substitutions S549N and N1303K.
|
1718974 |
1991 |
rs121908755
|
|
|
0.830 |
GeneticVariation |
BEFREE |
The manifestation of CF in this family was not related to the common mutation delta F508, since this fetus was heterozygous for the substitutions S549N and N1303K.
|
1718974 |
1991 |
rs113993959
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A cystic fibrosis patient with the nonsense mutation G542X and the splice site mutation 1717-1.
|
1757966 |
1991 |
rs74597325
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A cystic fibrosis patient homozygous for the nonsense mutation R553X.
|
1682496 |
1991 |
rs74597325
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The R553X mutation was present on a further 9 out of 86 German non-delta F508 CF chromosomes linked with the XV2c-KM19-Mp6d9-J44-GATT haplotypes 2-2-2-1-1 and 1-1-2-1-2.
|
1715308 |
1991 |
rs121909010
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nonsense mutations R553X and W1316X in respiratory epithelial cells of patients with cystic fibrosis.
|
1721624 |
1991 |
rs397508638
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The manifestation of CF in this family was not related to the common mutation delta F508, since this fetus was heterozygous for the substitutions S549N and N1303K.
|
1718974 |
1991 |
rs1800076
|
|
|
0.020 |
GeneticVariation |
BEFREE |
There are two other sequence variations in the CFTR gene; one of them (129G----C) is located 4 nucleotides upstream of the proposed translation initiation codon and, although present only on CF chromosomes, it is not clear whether it is a disease-causing mutation; the other (R75Q) is most likely a sequence variation within the coding region.
|
1710599 |
1991 |
rs75527207
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The mild clinical course of a patient with cystic fibrosis is presented who inherited the two mutations Gly551----Asp and Arg553----Stop in the cystic fibrosis transmembrane conductance regulator gene.
|
1376182 |
1992 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
This result is thus consistent with the hypothesis that PI and PS in CF are predisposed by the genotype at the CFTR locus; the PS phenotype occurs in patients who have one or two mild CFTR mutations, such as R117H, R334W, R347P, A455E, and P574H, whereas the PI phenotype occurs in patients with two severe alleles, such as delta F508, delta I507, Q493X, G542X, R553X, W1282X, 621 + 1G----T, 1717-1G----A, 556delA, 3659delC, I148T, G480C, V520F, G551D, and R560T.
|
1376016 |
1992 |
rs80034486
|
|
|
0.900 |
GeneticVariation |
BEFREE |
N1303K, identified on 216 of nearly 15,000 CF chromosomes tested, accounts for 1.5% of all CF chromosomes.
|
1380943 |
1992 |
rs80034486
|
|
|
0.900 |
GeneticVariation |
BEFREE |
N1303K is one of the most frequent non-delta F508 mutations causing cystic fibrosis in Central Europe.
|
1372094 |
1992 |
rs121908758
|
|
|
0.830 |
GeneticVariation |
BEFREE |
This result is thus consistent with the hypothesis that PI and PS in CF are predisposed by the genotype at the CFTR locus; the PS phenotype occurs in patients who have one or two mild CFTR mutations, such as R117H, R334W, R347P, A455E, and P574H, whereas the PI phenotype occurs in patients with two severe alleles, such as delta F508, delta I507, Q493X, G542X, R553X, W1282X, 621 + 1G----T, 1717-1G----A, 556delA, 3659delC, I148T, G480C, V520F, G551D, and R560T.
|
1376016 |
1992 |
rs74503330
|
|
|
0.820 |
GeneticVariation |
BEFREE |
Both patients with the complex allele F508C-S1251N are carrying delta F508 on the other CF chromosome and are suffering from severe pulmonary and gastrointestinal CF disease.
|
1284535 |
1992 |
rs80055610
|
|
|
0.820 |
GeneticVariation |
BEFREE |
This result is thus consistent with the hypothesis that PI and PS in CF are predisposed by the genotype at the CFTR locus; the PS phenotype occurs in patients who have one or two mild CFTR mutations, such as R117H, R334W, R347P, A455E, and P574H, whereas the PI phenotype occurs in patients with two severe alleles, such as delta F508, delta I507, Q493X, G542X, R553X, W1282X, 621 + 1G----T, 1717-1G----A, 556delA, 3659delC, I148T, G480C, V520F, G551D, and R560T.
|
1376016 |
1992 |
rs74597325
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The missense mutation Arg553----Stop discovered in American Blacks is also present on cystic fibrosis chromosomes of Caucasian ancestry.
|
1376182 |
1992 |
rs77010898
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In conclusion, the W1282X mutation is the most common cystic fibrosis mutation in the Ashkenazi Jewish patient population in Israel.
|
1370365 |
1992 |
rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We now report the application of this method to the simultaneous detection of all mutations and polymorphisms located in exon 10, together with the use of exon 10 polymorphisms, especially the most frequent one (M470V), as intragenic markers for prenatal diagnosis of cystic fibrosis in families with at least one affected child and unknown disease-causing mutations.
|
1545831 |
1992 |
rs213950
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In order to facilitate the screening for the less common mutations in the cystic fibrosis (CF) gene viz., the CF transmembrane conductance regulator gene (CFTR), marker haplotypes were determined for German non-CF (N) and CF chromosomes by polymerase chain reaction analysis of four polymorphisms upstream of the CF gene (XV-2c, KM.19, MP6-D9, J44) and six intragenic polymorphisms (GATT, TUB9, M470V, T854T, TUB18, TUB20) that span the CFTR gene from exon 6 through exon 21.
|
1371263 |
1992 |
rs397508638
|
|
|
0.100 |
GeneticVariation |
BEFREE |
N1303K, identified on 216 of nearly 15,000 CF chromosomes tested, accounts for 1.5% of all CF chromosomes.
|
1380943 |
1992 |
rs397508638
|
|
|
0.100 |
GeneticVariation |
BEFREE |
N1303K is one of the most frequent non-delta F508 mutations causing cystic fibrosis in Central Europe.
|
1372094 |
1992 |
rs74571530
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Both patients with the complex allele F508C-S1251N are carrying delta F508 on the other CF chromosome and are suffering from severe pulmonary and gastrointestinal CF disease.
|
1284535 |
1992 |
rs78655421
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Our results also suggest why R117H, R334W and R347P produce less severe clinical disease and have implications for our understanding of cystic fibrosis.
|
7680769 |
1993 |
rs121909011
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Our results also suggest why R117H, R334W and R347P produce less severe clinical disease and have implications for our understanding of cystic fibrosis.
|
7680769 |
1993 |
rs77932196
|
|
|
0.840 |
GeneticVariation |
BEFREE |
Our results also suggest why R117H, R334W and R347P produce less severe clinical disease and have implications for our understanding of cystic fibrosis.
|
7680769 |
1993 |