Variant (rsID / SNP)
rs75527207
rs75527207 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,227,860. Clinical significance in the table: Pathogenic.
Reference-table entries
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:117227860
- Cytoband
- 7q31.2
- HGVS
- NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
- Allele change
- Missense_G551D
Associated conditions / phenotypes
Cystic fibrosis|Hereditary pancreatitis|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|Congenital bilateral aplasia of vas deferens from CFTR mutation|Inborn genetic diseases|CFTR-related disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.