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.

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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     
+/+ 2 c.256_257del r.(?) p.(Glu86Thrfs*8) - - - pathogenic g.241680493_241680494del g.241517193_241517194del p.Glu43fs - FH_000147 FH enzymatic activity 43% - - - Unknown - - - 0 - Audrey Remenieras
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