Variant (rsID / SNP)
rs75134564
rs75134564 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OXCT1. Location: chromosome 5, position 41,862,758. Clinical significance in the table: Benign.
Reference-table entries
OXCT1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 5:41862758
- Cytoband
- 5p13.1
- HGVS
- NM_000436.4(OXCT1):c.173C>T (p.Thr58Met)
- Allele change
- Missense_T58M
Associated conditions / phenotypes
Succinyl-CoA acetoacetate transferase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.