Variant (rsID / SNP)

rs200098356

rs200098356 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA2D4. Location: chromosome 12, position 1,969,369. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CACNA2D4Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 12:1969369
Cytoband: 12p13.33
HGVS: NM_172364.5(CACNA2D4):c.1882C>T (p.Arg628Ter)
Allele change: Nonsense_R628X

Associated conditions / phenotypes

Retinal cone dystrophy 4|Abnormality of the eye

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.