Variant (rsID / SNP)

rs140986055

rs140986055 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACSF3. Location: chromosome 16, position 89,169,073. Clinical significance in the table: Pathogenic.

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Reference-table entries

ACSF3Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:89169073
Cytoband: 16q24.3
HGVS: NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu)
Allele change: Missense_P243L

Associated conditions / phenotypes

Combined malonic and methylmalonic acidemia

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.