Variant (rsID / SNP)
rs145900055
rs145900055 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,171,097. Clinical significance in the table: Uncertain significance.
Reference-table entries
CFTRUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:117171097
- Cytoband
- 7q31.2
- HGVS
- NM_000492.4(CFTR):c.418C>T (p.Pro140Ser)
- Allele change
- Missense_P140S
Associated conditions / phenotypes
Bronchiectasis with or without elevated sweat chloride 1|Congenital bilateral aplasia of vas deferens from CFTR mutation|Hereditary pancreatitis|Cystic fibrosis|Inborn genetic diseases|CFTR-related disorders|Cystic fibrosis|Hereditary pancreatitis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.