Variant (rsID / SNP)

rs121908422

rs121908422 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACAD8. Location: chromosome 11, position 134,131,232. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ACAD8Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 11:134131232
Cytoband: 11q25
HGVS: NM_014384.3(ACAD8):c.905G>A (p.Arg302Gln)
Allele change: Missense_R302Q

Associated conditions / phenotypes

Deficiency of isobutyryl-CoA dehydrogenase

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.