Variant (rsID / SNP)
rs144055758
rs144055758 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CFTR. Location: chromosome 7, position 117,250,679. 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
- 7:117250679
- Cytoband
- 7q31.2
- HGVS
- NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys)
- Allele change
- Missense_Y1032C
Associated conditions / phenotypes
Cystic fibrosis|Cystic fibrosis|Congenital bilateral aplasia of vas deferens from CFTR mutation|CFTR-related disorders|Inborn genetic diseases|Obstructive azoospermia
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.