Variant (rsID / SNP)

rs1805091

rs1805091 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC6A5. Location: chromosome 11, position 20,648,380. Clinical significance in the table: Benign.

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Reference-table entries

SLC6A5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 11:20648380
Cytoband: 11p15.1
HGVS: NM_004211.5(SLC6A5):c.1387G>A (p.Asp463Asn)
Allele change: Missense_D463N

Associated conditions / phenotypes

Hyperekplexia|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.