Variant (rsID / SNP)
rs147945812
rs147945812 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,250,741. Clinical significance in the table: Benign.
Reference-table entries
CFTRBenign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:117250741
- Cytoband
- 7q31.2
- HGVS
- NM_000492.4(CFTR):c.3139+18C>T
- Allele change
- Silent
Associated conditions / phenotypes
Cystic fibrosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.