Variant (rsID / SNP)

rs121918414

rs121918414 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLRA1. Location: chromosome 5, position 151,235,898. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GLRA1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 5:151235898
Cytoband: 5q33.1
HGVS: NM_000171.4(GLRA1):c.523A>G (p.Met175Val)
Allele change: Missense_M92V

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.