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Variant (rsID / SNP)

rs121908420

ACAD8

rs121908420 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACAD8. Location: chromosome 11, position 134,131,680. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ACAD8Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:134131680
Cytoband
11q25
HGVS
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp)
Allele change
Missense_R330W

Associated conditions / phenotypes

Deficiency of isobutyryl-CoA dehydrogenase

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.