Variant (rsID / SNP)

rs757552268

rs757552268 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC25A20. Location: chromosome 3, position 48,921,429. Clinical significance in the table: Pathogenic.

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Reference-table entries

SLC25A20Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 3:48921429
Cytoband: 3p21.31
HGVS: NM_000387.6(SLC25A20):c.326+1del

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.