Variant (rsID / SNP)

rs201789073

rs201789073 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1A. Location: chromosome 19, position 13,397,340. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CACNA1AUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:13397340
Cytoband: 19p13.13
HGVS: NM_001127222.2(CACNA1A):c.3530C>G (p.Pro1177Arg)
Allele change: Missense_P1178R

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 42|Episodic ataxia type 2

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.