Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs781721860

SLC22A5

rs781721860 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC22A5. Location: chromosome 5, position 131,719,864. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

SLC22A5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
5:131719864
Cytoband
5q31.1
HGVS
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met)
Allele change
Missense_V175M

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.