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Variant (rsID / SNP)

rs374307014

CACNA1A

rs374307014 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1A. Location: chromosome 19, position 13,428,086. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CACNA1AConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
19:13428086
Cytoband
19p13.13
HGVS
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=)
Allele change
Synonymous_S466S

Associated conditions / phenotypes

History of neurodevelopmental disorder|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.