Variant (rsID / SNP)

rs121908889

rs121908889 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC22A5. Location: chromosome 5, position 131,719,847. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC22A5Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:131719847
Cytoband: 5q31.1
HGVS: NM_003060.4(SLC22A5):c.506G>A (p.Arg169Gln)
Allele change: Missense_R169Q

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.