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: rs11971167
rs11971167
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.720 GeneticVariation BEFREE The triple mutant p.[R74W;V201M;D1270N] allele associated with the unknown p.P841R mutations were detected in this man with congenital bilateral absence of the vas deferens, which may presume p.P841R as a severe mutation. 18703181 2008
dbSNP: rs11971167
rs11971167
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.720 GeneticVariation BEFREE We found that R74W cystic fibrosis transmembrane conductance regulator appears to be a polymorphism, while D1270N cystic fibrosis transmembrane conductance regulator could be responsible for the congenital bilateral absence of the vas deferens phenotype. 10386624 1999
dbSNP: rs11971167
rs11971167
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0403814
Disease:
Congenital bilateral aplasia of vas deferens 		0.720 GeneticVariation UNIPROT