Variant (rsID / SNP)

rs386134212

rs386134212 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC22A5. Location: chromosome 5, position 131,722,757. 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: 5:131722757
Cytoband: 5q31.1
HGVS: NM_003060.4(SLC22A5):c.865C>T (p.Arg289Ter)
Allele change: Nonsense_R289X

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.