Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs76064926

CACNA2D4

rs76064926 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA2D4. Location: chromosome 12, position 1,965,210. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CACNA2D4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:1965210
Cytoband
12p13.33
HGVS
NM_172364.5(CACNA2D4):c.2120G>A (p.Arg707His)
Allele change
Missense_R707H

Associated conditions / phenotypes

Cone dystrophy 3|Progressive cone dystrophy (without rod involvement)|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.