Variant (rsID / SNP)

rs45527834

rs45527834 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNMA1. Location: chromosome 10, position 78,651,430. Clinical significance in the table: Benign/Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

KCNMA1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:78651430
Cytoband: 10q22.3
HGVS: NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=)
Allele change: Synonymous_T1010T

Associated conditions / phenotypes

Generalized epilepsy-paroxysmal dyskinesia syndrome

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.