Variant (rsID / SNP)

rs71454844

rs71454844 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA2D4. Location: chromosome 12, position 1,953,632. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CACNA2D4Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 12:1953632
Cytoband: 12p13.33
HGVS: NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter)
Allele change: Nonsense_Y802X

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.