Variant (rsID / SNP)

rs749357610

rs749357610 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1A. Location: chromosome 19, position 13,409,492. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CACNA1ABenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 19:13409492
Cytoband: 19p13.13
HGVS: NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=)
Allele change: Synonymous_P986P

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.