Variant (rsID / SNP)

rs199547699

rs199547699 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLRA1. Location: chromosome 5, position 151,239,545. 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: 5:151239545
Cytoband: 5q33.1
HGVS: NM_000171.4(GLRA1):c.277C>T (p.Arg93Trp)
Allele change: Missense_R10W

Associated conditions / phenotypes

Hyperekplexia 1|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.