Variant (rsID / SNP)
rs2276433
rs2276433 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC6A5. Location: chromosome 11, position 20,673,867. Clinical significance in the table: Benign.
Reference-table entries
SLC6A5Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:20673867
- Cytoband
- 11p15.1
- HGVS
- NM_004211.5(SLC6A5):c.2103G>A (p.Glu701=)
- Allele change
- Synonymous_E701E
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.