Gene entry
CACNA1F
calcium voltage-gated channel subunit alpha1 F
- Chromosome
- X
- Cytoband
- Xp11.23
- Variants (rsID)
- 14
CACNA1F is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xp11.23). Its official name is “calcium voltage-gated channel subunit alpha1 F”. The reference table lists 14 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs34162630Benignsingle nucleotide variantCongenital stationary night blindness 2A
- rs41312124Benignsingle nucleotide variantOcular albinism, type II|X-linked cone-rod dystrophy 3|Congenital stationary night blindness 2A
- rs141010716Conflicting interpretationssingle nucleotide variantCongenital stationary night blindness 2A
- rs141159097Likely benignsingle nucleotide variantCone-rod dystrophy|Congenital stationary night blindness 2A
- rs80359870PathogenicDuplicationCongenital stationary night blindness 2A
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
