Variant (rsID / SNP)

rs267606930

rs267606930 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to OXCT1. Location: chromosome 5, position 41,853,537. Clinical significance in the table: no interpretation for the single variant.

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Reference-table entries

OXCT1Other

Clinical significance (as recorded): no interpretation for the single variant
Variant type: single nucleotide variant
Chromosome / position: 5:41853537
Cytoband: 5p13.1
HGVS: NM_000436.4(OXCT1):c.398T>A (p.Val133Glu)
Allele change: Missense_V133E

Associated conditions / phenotypes

Succinyl-Coa:3-Oxoacid-Coa 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.