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Variant (rsID / SNP)

rs202022529

CACNA2D4

rs202022529 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA2D4. Location: chromosome 12, position 1,909,545. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CACNA2D4Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
12:1909545
Cytoband
12p13.33
HGVS
NM_172364.5(CACNA2D4):c.2921+7G>C
Allele change
Silent

Associated conditions / phenotypes

Retinal cone dystrophy 4

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.