Variant (rsID / SNP)

rs201612257

rs201612257 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1A. Location: chromosome 19, position 13,397,413. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CACNA1ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:13397413
Cytoband: 19p13.13
HGVS: NM_001127222.2(CACNA1A):c.3457C>G (p.Gln1153Glu)
Allele change: Missense_Q1154E

Associated conditions / phenotypes

Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42

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.