Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs61736602

SLC6A5

rs61736602 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC6A5. Location: chromosome 11, position 20,622,937. Clinical significance in the table: Benign/Likely benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SLC6A5Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
11:20622937
Cytoband
11p15.1
HGVS
NM_004211.5(SLC6A5):c.266C>A (p.Ala89Glu)
Allele change
Missense_A89E

Associated conditions / phenotypes

Hyperekplexia|Hyperekplexia 3

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.