Variant (rsID / SNP)

rs115545701

rs115545701 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,149,143. 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: 7:117149143
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
Allele change: Missense_R74W

Associated conditions / phenotypes

Cystic fibrosis|ivacaftor response - Efficacy|Inborn genetic diseases|Hereditary pancreatitis

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.