Variant (rsID / SNP)

rs121909301

rs121909301 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OXCT1. Location: chromosome 5, position 41,803,250. Clinical significance in the table: Pathogenic.

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Reference-table entries

OXCT1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:41803250
Cytoband: 5p13.1
HGVS: NM_000436.4(OXCT1):c.971G>A (p.Gly324Glu)
Allele change: Missense_G324E

Associated conditions / phenotypes

Succinyl-CoA acetoacetate transferase 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.