Variant (rsID / SNP)

rs281864918

rs281864918 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLRA1. Location: chromosome 5, position 151,231,024. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

GLRA1Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:151231024
Cytoband: 5q33.1
HGVS: NM_000171.4(GLRA1):c.839G>A (p.Arg280His)
Allele change: Missense_R197H

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.