Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs12447947

ACSF3

rs12447947 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACSF3. Location: chromosome 16, position 89,199,651. Clinical significance in the table: Benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

ACSF3Benign
Clinical significance (as recorded)
Benign
Variant type
synonymous_variant
Chromosome / position
16:89199651
HGVS
NM_001127214.4,c.1347G>A,p.Leu449Leu
Allele change
Synonymous_L449L

Associated conditions / phenotypes

Methylmalonic Acidemia|Combined Malonic and Methylmalonic Aciduria|Isolated Methylmalonic Acidemia

Public references

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