Variant (rsID / SNP)

rs75463357

rs75463357 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLRA1. Location: chromosome 5, position 151,208,500. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

GLRA1Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 5:151208500
Cytoband: 5q33.1
HGVS: NM_000171.4(GLRA1):c.1041G>A (p.Arg347=)
Allele change: Synonymous_R264R

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.