Variant (rsID / SNP)

rs542582794

rs542582794 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A20. Location: chromosome 3, position 48,936,239. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

SLC25A20Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:48936239
Cytoband: 3p21.31
HGVS: NM_000387.6(SLC25A20):c.-12G>A
Allele change: Silent

Associated conditions / phenotypes

Carnitine acylcarnitine translocase deficiency

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.