Variant (rsID / SNP)

rs121908494

rs121908494 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC6A5. Location: chromosome 11, position 20,649,602. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC6A5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:20649602
Cytoband: 11p15.1
HGVS: NM_004211.5(SLC6A5):c.1472A>G (p.Tyr491Cys)
Allele change: Missense_Y491C

Associated conditions / phenotypes

Hyperekplexia 3

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.