Variant (rsID / SNP)

rs115228472

rs115228472 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA2D4. Location: chromosome 12, position 1,965,243. Clinical significance in the table: Benign.

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Reference-table entries

CACNA2D4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 12:1965243
Cytoband: 12p13.33
HGVS: NM_172364.5(CACNA2D4):c.2087A>G (p.His696Arg)
Allele change: Missense_H696R

Associated conditions / phenotypes

Retinal cone dystrophy 4

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.