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.

10 entries on 1 page. Showing entries 1 - 10.
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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     
+/. - c.698G>A r.(?) p.(Arg233His) - - - pathogenic g.241671943C>T g.241508643C>T - - FH_000048 - - - - Germline - - - 0 - Andreas Laner
+/+? 5 c.698G>A r.(?) p.(Arg233His) - - - pathogenic g.241671943C>T g.241508643C>T Arg190His, R190H, R233H - FH_000048 Dominant negative mutation, UK, USA, Spain, not found in 720 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Wei, PubMed: Chuang, {PMID:Toro 17960613:Lorenzato: 12772087} - - Germline - - - 0 - Jean-Pierre Bayley
?/+? 5 c.698G>A r.(?) p.(Arg233His) 0.06 - - VUS g.241671943C>T g.241508643C>T Arg190His, R190H, R233H - FH_000048 Dominant negative mutation, UK, USA, Spain, not found in 720 chrom PubMed: Loeffen - - Germline - - - 0 - Jean-Pierre Bayley
?/+? 5 c.698G>A r.(?) p.(Arg233His) 0.25 - - VUS g.241671943C>T g.241508643C>T Arg190His, R190H, R233H - FH_000048 Dominant negative mutation, UK, USA, Spain, not found in 720 chrom PubMed: Tomlinson - - Germline - - - 0 - Jean-Pierre Bayley
?/+? 5 c.698G>A r.(?) p.(Arg233His) - - - VUS g.241671943C>T g.241508643C>T Arg190His, R190H, R233H - FH_000048 Dominant negative mutation, UK, USA, Spain, not found in 720 chrom PubMed: Pollard - - Germline - - - 0 - Jean-Pierre Bayley
?/+? 5 c.698G>A r.(?) p.(Arg233His) - - - VUS g.241671943C>T g.241508643C>T Arg190His, R190H, R233H - FH_000048 Dominant negative mutation, UK, USA, Spain, not found in 720 chrom PubMed: Huter - - Germline - - - 0 - Jean-Pierre Bayley
?/? 5 c.698G>A r.(?) p.(Arg233His) - - - VUS g.241671943C>T g.241508643C>T Arg190His, R190H, R233H - FH_000048 Dominant negative mutation, UK, USA, Spain, not found in 720 chrom PubMed: Gatalica - - Somatic - - - 0 - Jean-Pierre Bayley
+/. - c.698G>A r.(?) p.(Arg233His) - - - pathogenic g.241671943C>T g.241508643C>T FH(NM_000143.3):c.698G>A (p.R233H) - FH_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.698G>A r.(?) p.(Arg233His) - - - pathogenic g.241671943C>T g.241508643C>T FH(NM_000143.3):c.698G>A (p.R233H) - FH_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.698G>A r.(?) p.(Arg233His) - missense ACMG pathogenic (dominant) g.241671943C>T - - - FH_000048 ACMG: PS3, PS4, PM1, PP1_MOD, PM2_SUP - - rs121913123 Germline - - - - - Andreas Laner
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