present in Gene: CFTR
present in Chromosome: 7
Position on Chromosome: 117504255
Alleles of this Variant: G/A
rs1057516232 in
CFTR gene and
Cystic Fibrosis
PMID 25910067 2015 A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.