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Variant (rsID / SNP)

rs41276886

CACNA1A

rs41276886 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1A. Location: chromosome 19, position 13,428,124. 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
19:13428124
Cytoband
19p13.13
HGVS
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)
Allele change
Missense_A454T

Associated conditions / phenotypes

History of neurodevelopmental disorder|Episodic ataxia type 2|Developmental and epileptic encephalopathy, 42|Episodic ataxia type 2

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.