Variant (rsID / SNP)

rs199793367

rs199793367 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1A. Location: chromosome 19, position 13,397,461. 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: 19:13397461
Cytoband: 19p13.13
HGVS: NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala)
Allele change: Missense_P1138A

Associated conditions / phenotypes

History of neurodevelopmental disorder|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.