Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs115066564

CACNA1D

rs115066564 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1D. Location: chromosome 3, position 53,769,508. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CACNA1DConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:53769508
Cytoband
3p21.1
HGVS
NM_001128840.3(CACNA1D):c.2729G>A (p.Arg910His)
Allele change
Missense_R910H

Public references

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