Gene entry
CACNA2D4
calcium voltage-gated channel auxiliary subunit alpha2delta 4
- Chromosome
- 12
- Cytoband
- 12p13.33
- Variants (rsID)
- 67
CACNA2D4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12p13.33). Its official name is “calcium voltage-gated channel auxiliary subunit alpha2delta 4”. The reference table lists 67 variants (rsID) for this gene.
Clinically classified variants
12 reference-table entries with clinical significance.
- rs115228472Benignsingle nucleotide variantRetinal cone dystrophy 4
- rs13219Benignsingle nucleotide variantRetinal cone dystrophy 4
- rs147575839Benignsingle nucleotide variantRetinal cone dystrophy 4
- rs202022529Benignsingle nucleotide variantRetinal cone dystrophy 4
- rs55971855Benignsingle nucleotide variantRetinal cone dystrophy 4
- rs573565912Benignsingle nucleotide variantRetinal cone dystrophy 4
- rs62621429Benignsingle nucleotide variantRetinal cone dystrophy 4
- rs200098356Conflicting interpretationssingle nucleotide variantRetinal cone dystrophy 4|Abnormality of the eye
- rs71454844Conflicting interpretationssingle nucleotide variantRetinal cone dystrophy 4
- rs76064926Conflicting interpretationssingle nucleotide variantCone dystrophy 3|Progressive cone dystrophy (without rod involvement)|Retinal cone dystrophy 4
- rs151121191Likely benignsingle nucleotide variantRetinal cone dystrophy 4
- rs200563551Uncertain significancesingle nucleotide variantCone dystrophy 3
Other listed variants
- rs721159
- rs886940
- rs886945
- rs2470414
- rs4590933
- rs4765863
- rs4766425
- rs6489330
- rs7137757
- rs7294328
- rs7294565
- rs7300241
- rs7303599
- rs7305265
- rs7976130
- rs7979395
- rs10161058
- rs10848581
- rs10848582
- rs11061996
- rs11062006
- rs11834934
- rs12301312
- rs12307334
- rs12311729
- rs12425981
- rs34885511
- rs56192305
- rs60072629
- rs60501578
- rs68074245
- rs72653431
- rs75627462
- rs76519414
- rs76603393
- rs76782035
- rs76831689
- rs76973439
- rs77256415
- rs77934635
- rs78207232
- rs78614635
- rs78958072
- rs79845762
- rs79922088
- rs118070468
- rs138567080
- rs148654715
- rs150648238
- rs191713334
- rs199690703
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.