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.
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     
+?/+ 4 c.434C>G r.(?) p.(Ser145*) - - - likely pathogenic g.241675388G>C g.241512088G>C S102X - FH_000027 not found in 320 chrom PubMed: Wei - - Germline - - - 0 - Jean-Pierre Bayley
+/. - c.434C>G r.(?) p.(Ser145Ter) - - - pathogenic g.241675388G>C g.241512088G>C - - FH_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
Legend   How to query