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.

7 entries on 1 page. Showing entries 1 - 7.
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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     
+/+ 3 c.349G>C r.(?) p.(Ala117Pro) - - - pathogenic g.241676932C>G g.241513632C>G Ala74Pro - FH_000018 UK, not found in 300 chrom PubMed: Tomlinson - - Germline - - - 0 - Jean-Pierre Bayley
+/+ 3 c.349G>C r.(?) p.(Ala117Pro) - - - pathogenic g.241676932C>G g.241513632C>G p.Ala74Pro - FH_000018 Fh enzymatic activity 41% - - - Unknown - - - 0 - Audrey Remenieras
+/+ 3 c.349G>C r.(?) p.(Ala117Pro) - - - pathogenic g.241676932C>G g.241513632C>G Ala74Pro - FH_000018 UK, not found in 300 chrom - - - Unknown - - - 0 - Audrey Remenieras
+/+ 3 c.349G>C r.(?) p.(Ala117Pro) 0.42 - - pathogenic g.241676932C>G g.241513632C>G Ala74Pro - FH_000018 UK, not found in 300 chrom - - - Unknown - - - 0 - Audrey Remenieras
+/+ 3 c.349G>C r.(?) p.(Ala117Pro) 0 - - pathogenic g.241676932C>G g.241513632C>G Ala74Pro - FH_000018 UK, not found in 300 chrom - - - Unknown - - - 0 - Audrey Remenieras
+/+ 3 c.349G>C r.(?) p.(Ala117Pro) 0 - - pathogenic g.241676932C>G g.241513632C>G Ala74Pro - FH_000018 UK, not found in 300 chrom - - - Unknown - - - 0 - Audrey Remenieras
+/+ 3 c.349G>C r.(?) p.(Ala117Pro) 0 - - pathogenic g.241676932C>G g.241513632C>G p.Ala74Pro - FH_000018 Fh enzymatic activity 41% - - - Unknown - - - 0 - Audrey Remenieras
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