Variant (rsID / SNP)
rs200337193
rs200337193 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,149,085. 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
- 7:117149085
- Cytoband
- 7q31.2
- HGVS
- NM_000492.4(CFTR):c.165-3C>T
- Allele change
- Silent
Associated conditions / phenotypes
Cystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Inborn genetic diseases|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.