Variant (rsID / SNP)
rs113993958
rs113993958 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,171,007. 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
- 7:117171007
- Cytoband
- 7q31.2
- HGVS
- NM_000492.4(CFTR):c.328G>C (p.Asp110His)
- Allele change
- Missense_D110H
Associated conditions / phenotypes
Cystic fibrosis|ivacaftor response - Efficacy|CFTR-related disorders|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders|Hereditary pancreatitis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.