Variant (rsID / SNP)

rs186045772

rs186045772 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,251,717. Clinical significance in the table: drug response.

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Reference-table entries

CFTRDrug response

Clinical significance (as recorded): drug response
Variant type: single nucleotide variant
Chromosome / position: 7:117251717
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)
Allele change: Missense_F1074L

Associated conditions / phenotypes

Cystic fibrosis|ivacaftor response - Efficacy|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.