Variant (rsID / SNP)

rs121909020

rs121909020 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,251,694. Clinical significance in the table: drug response.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CFTRDrug response

Clinical significance (as recorded): drug response
Variant type: single nucleotide variant
Chromosome / position: 7:117251694
Cytoband: 7q31.2
HGVS: NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr)
Allele change: Missense_A1067T

Associated conditions / phenotypes

Cystic fibrosis|ivacaftor response - Efficacy|Inborn genetic diseases|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.