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.

4 entries on 1 page. Showing entries 1 - 4.
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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     
?/- 1 c.-11C>T r.(=) p.(=) 0 - - VUS g.241683033G>A g.241519733G>A C>T -11 of ATG - FH_000002 - PubMed: Lehtonen - - Germline - - - 0 - Jean-Pierre Bayley
?/? 1 c.-11C>T r.(=) p.(=) 0.01 - - VUS g.241683033G>A g.241519733G>A p.? - FH_000002 FH enzymatic activity : normal - - - Unknown - - - 0 - Audrey Remenieras
-?/. - c.-11C>T r.(?) p.(=) - - - likely benign g.241683033G>A g.241519733G>A FH(NM_000143.3):c.-11C>T - FH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.-11C>T r.(?) p.(=) - - - likely benign g.241683033G>A g.241519733G>A FH(NM_000143.3):c.-11C>T - FH_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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