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     
+/+? 5i c.738+3A>G r.spl? p.(=) - - - pathogenic g.241671900T>C g.241508600T>C (IVS5) IVS4+ 3A>G - FH_000050 Leads to exon 4 deletion PubMed: Lehtonen - - Somatic - - - 0 - Jean-Pierre Bayley
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