Variant (rsID / SNP)
rs80359870
rs80359870 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1F. Clinical significance in the table: Pathogenic.
Reference-table entries
CACNA1FPathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- Duplication
- Cytoband
- Xp11.23
- HGVS
- NM_001256789.3(CACNA1F):c.3133dup (p.Leu1045fs)
Associated conditions / phenotypes
Congenital stationary night blindness 2A
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.