Variant (rsID / SNP)

rs200563551

rs200563551 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA2D4. Location: chromosome 12, position 2,017,097. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CACNA2D4Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:2017097
Cytoband: 12p13.33
HGVS: NM_172364.5(CACNA2D4):c.593T>A (p.Leu198Gln)
Allele change: Missense_L198Q

Associated conditions / phenotypes

Cone dystrophy 3

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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