Variant (rsID / SNP)
rs80034486
rs80034486 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,292,931. Clinical significance in the table: Pathogenic.
Reference-table entries
CFTRPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:117292931
- Cytoband
- 7q31.2
- HGVS
- NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)
- Allele change
- Missense_N1303K
Associated conditions / phenotypes
Cystic fibrosis|Inborn genetic diseases|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders|Hereditary pancreatitis|Spermatogenic failure, Y-linked, 2
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.