Variant (rsID / SNP)

rs149105213

rs149105213 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC6A9. Location: chromosome 1, position 44,467,259. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SLC6A9Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:44467259
Cytoband: 1p34.1
HGVS: NM_001024845.3(SLC6A9):c.1003G>A (p.Val335Ile)
Allele change: Silent

Associated conditions / phenotypes

Atypical glycine encephalopathy

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.