Variant (rsID / SNP)

rs16030

rs16030 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1A. Location: chromosome 19, position 13,387,904. Clinical significance in the table: Benign.

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Reference-table entries

CACNA1ABenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 19:13387904
Cytoband: 19p13.13
HGVS: NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=)
Allele change: Synonymous_F1288F

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.