Variant (rsID / SNP)
rs202179988
rs202179988 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,251,703. Clinical significance in the table: drug response.
Reference-table entries
CFTRDrug response
- Clinical significance (as recorded)
- drug response
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:117251703
- Cytoband
- 7q31.2
- HGVS
- NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)
- Allele change
- Missense_R1070W
Associated conditions / phenotypes
Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|ivacaftor response - Efficacy|Cystic fibrosis|Cystic fibrosis|CFTR-related disorders|Inborn genetic diseases|CFTR-related disorders|Congenital bilateral absence of vas deferens
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.