Variant (rsID / SNP)

rs121908498

rs121908498 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC6A5. Location: chromosome 11, position 20,648,267. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SLC6A5Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:20648267
Cytoband: 11p15.1
HGVS: NM_004211.5(SLC6A5):c.1274C>T (p.Thr425Met)
Allele change: Missense_T425M

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.