Variant (rsID / SNP)

rs200910800

rs200910800 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1D. Location: chromosome 3, position 53,736,798. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CACNA1DUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 3:53736798
Cytoband: 3p21.1
HGVS: NM_001128840.3(CACNA1D):c.1351G>C (p.Glu451Gln)
Allele change: Missense_E451Q

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.