CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Congenital bilateral aplasia of vas deferens ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74571530
rs74571530
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.020 GeneticVariation BEFREE We conclude that the F508C variant in cystic fibrosis transmembrane conductance regulator may represent a pathogenic defect and lead to congenital bilateral absence of the vas deferens when combined with a second cystic fibrosis transmembrane conductance regulator mutation. 19092444 2008
dbSNP: rs74571530
rs74571530
Entrez Id: 1080;111082987
Gene Symbol: CFTR;CFTR-AS1
CFTR;CFTR-AS1
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.020 GeneticVariation BEFREE We identified a novel TG12T3 allele in a congenital bilateral absence of vas deferens (CBAVD) patient who carries a [TG11T7; p.Phe508Cys; p.Met470Val] haplotype on the other chromosome. 15580565 2005