Variant (rsID / SNP)
rs121908752
rs121908752 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,175,339. Clinical significance in the table: Pathogenic; drug response.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic; drug response
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:117175339
- Cytoband
- 7q31.2
- HGVS
- NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)
- Allele change
- Missense_L206W
Associated conditions / phenotypes
Cystic fibrosis|ivacaftor response - Efficacy|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Bronchiectasis with or without elevated sweat chloride 1|Hereditary pancreatitis|Cystic fibrosis|CFTR-related disorders|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.