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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+?/+? 4i c.555+1G>A r.spl? p.(=) - - - likely pathogenic g.241675266C>T g.241511966C>T IVS4+1G > A, Splice site - FH_000034 - PubMed: Badeloe - - Germline - - - 0 - Jean-Pierre Bayley
+/+? 4i c.555+1G>A r.spl? p.(=) 0.15 - - pathogenic g.241675266C>T g.241511966C>T p.? - FH_000127 FH enzymatic activity 61% - - - Unknown - - - 0 - Audrey Remenieras
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