Variant (rsID / SNP)

rs1131824

rs1131824 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNMA1. Location: chromosome 10, position 78,944,590. Clinical significance in the table: Benign.

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Reference-table entries

KCNMA1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 10:78944590
Cytoband: 10q22.3
HGVS: NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=)
Allele change: Synonymous_F229F

Associated conditions / phenotypes

Generalized epilepsy-paroxysmal dyskinesia syndrome|Cerebellar atrophy, developmental delay, and seizures|Liang-Wang 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.