Variant (rsID / SNP)

rs75450512

rs75450512 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC6A5. Location: chromosome 11, position 20,676,326. Clinical significance in the table: Likely benign.

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Reference-table entries

SLC6A5Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 11:20676326
Cytoband: 11p15.1
HGVS: NM_004211.5(SLC6A5):c.2306G>A (p.Arg769His)
Allele change: Missense_R769H

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.