Variant (rsID / SNP)
rs1800100
rs1800100 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,232,223. 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
- 7:117232223
- Cytoband
- 7q31.2
- HGVS
- NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
- Allele change
- Missense_R668C
Associated conditions / phenotypes
Cystic fibrosis|Hereditary pancreatitis|Congenital bilateral aplasia of vas deferens from CFTR mutation|Cystic fibrosis|Bronchiectasis with or without elevated sweat chloride 1|Chronic sinusitis|Lung disease, non-specific|CFTR-related disorders|Inborn genetic diseases|Hereditary pancreatitis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.