Variant (rsID / SNP)
rs1800111
rs1800111 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,250,575. 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
- 7:117250575
- Cytoband
- 7q31.2
- HGVS
- NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
- Allele change
- Missense_L997F
Associated conditions / phenotypes
Pancreatitis, idiopathic, susceptibility to|Hypertrypsinemia, neonatal, susceptibility to|Cystic fibrosis|Pancreatitis|CFTR-related disorders|Inborn genetic diseases|Infertility|Obstructive azoospermia|Hereditary pancreatitis
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.