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Variant (rsID / SNP)

rs28383481

SLC22A5

rs28383481 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC22A5. Location: chromosome 5, position 131,729,380. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SLC22A5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:131729380
Cytoband
5q31.1
HGVS
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
Allele change
Missense_R488H

Associated conditions / phenotypes

Renal carnitine transport defect

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.