Variant (rsID / SNP)
rs77284892
rs77284892 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,149,101. Clinical significance in the table: Pathogenic.
Reference-table entries
CFTRPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 7:117149101
- Cytoband
- 7q31.2
- HGVS
- NM_000492.4(CFTR):c.178G>T (p.Glu60Ter)
- Allele change
- Nonsense_E60X
Associated conditions / phenotypes
Cystic fibrosis|Bronchiectasis with or without elevated sweat chloride 1|Cystic fibrosis|Hereditary pancreatitis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.