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Phenotype
Cystic fibrosis
157articles
157mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
4 records shown · first 60Three Complex alleles associated with N1303K mutation and their molecular consequences.
PMID 35988290 | DOI 10.14715/cmb/2022.68.4.7 · Cellular and molecular biology (Noisy-le-Grand, France) · 2022 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | cystic fibrosis | “Cystic Fibrosis (CF) in Arab Mediterranean countries has a different CFTR mutational profile if compared either to Caucasians or in the Arabian Peninsula.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | N1303K | “Three Complex alleles associated with N1303K mutation and their molecular consequences.” | 0.82 | literature_variant_regex_v2 |
| gene | CFTR | “Cystic Fibrosis (CF) in Arab Mediterranean countries has a different CFTR mutational profile if compared either to Caucasians or in the Arabian Peninsula.” | 0.98 | hgnc_dict_v1 |
| variant | c.3909C>G | “The c.3909C>G (N1303K, p.Asn1303Lys) mutation of the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR).” | 0.95 | hgvs_regex_v1 |
Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.
PMID 33718573 | PMCID PMC7922840 | DOI 10.1016/j.ijpam.2019.12.002 · International journal of pediatrics & adolescent medicine · 2021 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | cystic fibrosis | “Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.N1303K | “RESULTS: The ten most common CFTR mutations in the Saudi population were as follows: p.Gly473GlufsX54 (17%), p.Phe508del (12%), p.Ile1234Val (12%), 3120+1G > A (11%), 711+1G > T (9%), p.His139Leu (6%), p.Gln637Hisfs (5%), p.Ser549Arg (3%), p.N1303K (3%), and delExon19-21 (2%) along with other variants 79 (20%).” | 0.95 | hgvs_regex_v1 |
| gene | CFTR | “Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia, Northern Province | “Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia. INTRODUCTION: Cystic fibrosis (CF) has been reported before in Saudi Arabia and the Gulf area. OBJECTIVES: To determine the geographic distribution of the most common CFTR variants in 5 regions of Saudi Arabia. RESULTS: The ten most common CFTR mutations in the Saudi population were as follows: p.Gly473GlufsX54 (17%), p.Phe508del (12%), p.Ile1234Val (12%), 3120+1G > A (11%), 711+1G > T (9%), p.His139Leu (6%), p.Gln637Hisfs (5%), p.Ser549Arg (3%), p.N1303K (3%), and delExon19-21 (2%) along with other variants 79 (20%). In terms of the highest frequency, the c.2988+1G > A (3120+1G > A) variant was found in the eastern province (7.3%) of Saudi Arabia, the c.1418delG (p.Gly473GlufsX54) variant in the northern province (6.8%), the c.579+1G > T (711+1G > T) variant in the southern province (4.8%), the c.3700A > G (p.Ile1234Val) variant in the central province (4.8%), and c.1521_1523delCTT (p.Phe508del) variant in the western province (4.3%). CONCLUSION: The eastern and the northern provinces have the highest prevalence of CF, with the c.2988+1G > A (3120+1G > A) and c.1418delG (p.Gly473GlufsX54) variants showing the highest distribution in the Saudi CF population, which may reflect the effect of consanguinity within the same tribe.” | 0.95 | saudi_context_rules_v1 |
Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations.
PMID 10834512 | DOI 10.1007/s004310051277 · European journal of pediatrics · 2000 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | cystic fibrosis | “Identification of novel mutations in Arabs with cystic fibrosis and their impact on the cystic fibrosis transmembrane regulator mutation detection rate in Arab populations.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | N1303K | “UNLABELLED: The cystic fibrosis transmembrane regulator (CFTR) gene in Arab patients with cystic fibrosis (CF) (sweat chloride > 60 mmol/l) from 61 unrelated families was screened for mutations in exons 3, 4, 5, 7, 10, 11, 16 and 19 and for mutations W1282X, N1303K and 3,849 + 10kbC --> T.” | 0.82 | literature_variant_regex_v2 |
| gene | CFTR | “UNLABELLED: The cystic fibrosis transmembrane regulator (CFTR) gene in Arab patients with cystic fibrosis (CF) (sweat chloride > 60 mmol/l) from 61 unrelated families was screened for mutations in exons 3, 4, 5, 7, 10, 11, 16 and 19 and for mutations W1282X, N1303K and 3,849 + 10kbC --> T.” | 0.98 | hgnc_dict_v1 |
| variant | W1282X | “UNLABELLED: The cystic fibrosis transmembrane regulator (CFTR) gene in Arab patients with cystic fibrosis (CF) (sweat chloride > 60 mmol/l) from 61 unrelated families was screened for mutations in exons 3, 4, 5, 7, 10, 11, 16 and 19 and for mutations W1282X, N1303K and 3,849 + 10kbC --> T.” | 0.82 | literature_variant_regex_v2 |
Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.
PMID 9429141 | PMCID PMC1051150 | DOI 10.1136/jmg.34.12.996 · Journal of medical genetics · 1997 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| phenotype | cystic fibrosis | “Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | N1303K | “Prominent mutations were the splice mutation 3120 + 1G-->A (intron 16) followed by N1303K (exon 21) and 1548delG (exon 10).” | 0.82 | literature_variant_regex_v2 |
| gene | CFTR | “Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis. We have investigated 15 Arab children from 12 families, who were diagnosed as having CF, for mutations in the coding region and in the flanking intron sequences of the CFTR gene.” | 0.95 | saudi_context_rules_v1 |