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Variant (rsID / SNP)

rs138680796

ACSF3

rs138680796 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACSF3. Location: chromosome 16, position 89,211,719. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ACSF3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:89211719
Cytoband
16q24.3
HGVS
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)
Allele change
Missense_R471W

Associated conditions / phenotypes

Combined malonic and methylmalonic acidemia|Methylmalonic acidemia

Public references

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