All variants in the FH gene

LUMC Fumarate Hydratase gene variant database
Information The variants shown are described using the NM_000143.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict/SIFT     

Predicted     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+? 3i c.379-2A>G r.spl? p.(=) - - - pathogenic g.241675445T>C g.241512145T>C p.? - FH_000124 FH enzymatic activity 53% - - - Unknown - - - 0 - Audrey Remenieras
+/+? 3i c.379-2A>G r.spl? p.(=) - - - pathogenic g.241675445T>C g.241512145T>C p.? - FH_000124 FH enzymatic activity 50% - - - Unknown - - - 0 - Audrey Remenieras
+/+? 3i c.379-2A>G r.spl? p.(=) - - - pathogenic g.241675445T>C g.241512145T>C p.? - FH_000124 FH enzymatic activity 50% - - - Unknown - - - 0 - Audrey Remenieras
Legend   How to query