Variant (rsID / SNP)

rs3743979

rs3743979 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACSF3. Location: chromosome 16, position 89,180,883. Clinical significance in the table: Benign.

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Reference-table entries

ACSF3Benign

Clinical significance (as recorded): Benign
Variant type: missense_variant
Chromosome / position: 16:89180883
HGVS: NM_001127214.4,c.1114G>A,p.Val372Met
Allele change: Missense_V372M

Associated conditions / phenotypes

Methylmalonic Acidemia|Combined Malonic and Methylmalonic Aciduria|Isolated 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.