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     
?/? 5 c.587A>G r.(?) p.(His196Arg) - - - VUS g.241672054T>C g.241508754T>C His153Arg - FH_000041 Finland, not in 268 chrom PubMed: Kiuru, PubMed: Lehtonen - - Germline - - - 0 - Jean-Pierre Bayley
?/? 5 c.587A>G r.(?) p.(His196Arg) - - - VUS g.241672054T>C g.241508754T>C His153Arg - FH_000041 Finland, not in 268 chrom PubMed: Kiuru, PubMed: Lehtonen - - Germline - - - 0 - Jean-Pierre Bayley
?/? 5 c.587A>G r.(?) p.(His196Arg) - - - VUS g.241672054T>C g.241508754T>C His153Arg - FH_000041 Finland, not in 268 chrom PubMed: Kiuru, PubMed: Lehtonen - - Germline - - - 0 - Jean-Pierre Bayley
+/. - c.587A>G r.(?) p.(His196Arg) - - - pathogenic g.241672054T>C g.241508754T>C - - FH_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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