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ENOSF1

Synonyms
FUCD, RTS, TYMSAS
External resources
Summary
This gene can encode a mitochondrial enzyme that is thought to convert L-fuconate to 2-keto-3-deoxy-L-fuconate. This locus was originally identified as the source of antisense RNAs of the adjacent thymidylate synthase gene. Splice variants at this locus may contain an alternate 3' exon that is complementary to the 3'UTR and terminal intron of the thymidylate synthase (TS) RNA and may downregulate TS expression.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
7,817
Likely benign
1,977
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on ENOSF1 gene.

Phenotype class
Patients in 3billion (%)

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