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.239dup r.(?) p.(Ile81Aspfs*14) - - - likely pathogenic g.241680511dup g.241517211dup 111insA/K37 Frameshift - FH_000009 - PubMed: Wei - - Germline - - - 0 - Jean-Pierre Bayley
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