CFTR, CF transmembrane conductance regulator, 1080

N. diseases: 476; N. variants: 673
Disease: Hyponatraemic ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs77409459
rs77409459
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CUI: C0857122
Disease:
Hyponatraemic 		0.010 GeneticVariation BEFREE This mutation was detected in a single patient of Sardinian descent in compound heterozygosity with T338I, who presented at 9 years of age with hyponatremic dehydration associated with hypochloremia, hypokaliemia and metabolic alkalosis.Sweat chloride values were 120 mmol/l. 9554753 1998