Variant (rsID / SNP)

rs122453118

rs122453118 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC6A8. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC6A8Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq28
HGVS: NM_005629.4(SLC6A8):c.1473C>G (p.Cys491Trp)
Allele change: Missense_C481W

Associated conditions / phenotypes

Creatine transporter deficiency

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.