Variant (rsID / SNP)
rs397508783
rs397508783 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,175,417. Clinical significance in the table: Pathogenic.
Reference-table entries
CFTRPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:117175417
- Cytoband
- 7q31.2
- HGVS
- NM_000492.4(CFTR):c.695T>A (p.Val232Asp)
- Allele change
- Missense_V232D
Associated conditions / phenotypes
Cystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|CFTR-related disorders|CFTR-related disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.