Variant (rsID / SNP)
rs397508256
rs397508256 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,149,089. Clinical significance in the table: Pathogenic; drug response.
Reference-table entries
CFTRPathogenic
- Clinical significance (as recorded)
- Pathogenic; drug response
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:117149089
- Cytoband
- 7q31.2
- HGVS
- NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)
- Allele change
- Missense_E56K
Associated conditions / phenotypes
Cystic fibrosis|ivacaftor response - Efficacy|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.