Variant (rsID / SNP)
rs193922501
rs193922501 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,120,162. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CFTRConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:117120162
- Cytoband
- 7q31.2
- HGVS
- NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)
- Allele change
- Missense_P5L
Associated conditions / phenotypes
Cystic fibrosis|Inborn genetic diseases|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders|Cystic fibrosis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.