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Variant (rsID / SNP)

rs201200430

CACNA1A

rs201200430 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1A. Location: chromosome 19, position 13,372,293. 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
19:13372293
Cytoband
19p13.13
HGVS
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=)
Allele change
Synonymous_D1408D

Associated conditions / phenotypes

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

Public references

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