Variant (rsID / SNP)

rs281864919

rs281864919 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLRA1. Location: chromosome 5, position 151,202,325. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

GLRA1Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:151202325
Cytoband: 5q33.1
HGVS: NM_000171.4(GLRA1):c.1259G>A (p.Arg420His)
Allele change: Missense_R337H

Associated conditions / phenotypes

Hereditary hyperekplexia

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.