Variant (rsID / SNP)
rs193922511
rs193922511 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,243,741. 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
- 7:117243741
- Cytoband
- 7q31.2
- HGVS
- NM_000492.4(CFTR):c.2813T>G (p.Val938Gly)
- Allele change
- Missense_V938G
Associated conditions / phenotypes
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.