Variant (rsID / SNP)

rs184841813

rs184841813 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1B. Location: chromosome 9, position 140,952,560. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CACNA1BUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 9:140952560
Cytoband: 9q34.3
HGVS: NM_000718.4(CACNA1B):c.4166G>A (p.Arg1389His)
Allele change: Missense_R1389H

Associated conditions / phenotypes

Dystonia 23

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.