Variant (rsID / SNP)

rs17053501

rs17053501 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1D. Location: chromosome 3, position 53,804,489. Clinical significance in the table: Benign.

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Reference-table entries

CACNA1DBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 3:53804489
Cytoband: 3p21.1
HGVS: NM_001128840.3(CACNA1D):c.3954C>T (p.Phe1318=)
Allele change: Synonymous_F1318F

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.