Variant (rsID / SNP)

rs80338739

rs80338739 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC6A8. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SLC6A8Pathogenic

Clinical significance (as recorded): Pathogenic/Likely pathogenic
Variant type: Microsatellite
Cytoband: Xq28
HGVS: NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del)

Associated conditions / phenotypes

Creatine transporter deficiency|Inborn genetic diseases

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.