Variant (rsID / SNP)

rs11568520

rs11568520 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC22A5. Location: chromosome 5, position 131,705,715. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SLC22A5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:131705715
Cytoband: 5q31.1
HGVS: NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu)
Allele change: Missense_F17L

Associated conditions / phenotypes

Renal carnitine transport defect

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.