Full data view for gene FH

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.698G>A r.(?) p.(Arg233His) - - Parent #1 - pathogenic g.241671943C>T g.241508643C>T - - FH_000048 - - - - Germline - - - - - DNA SEQ - - MEOAL;MMDS8 - - - - - Germany - - - - - 1 Andreas Laner
+/+? 5 c.698G>A r.(?) p.(Arg233His) - - Parent #1 - 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 - - - - - DNA SEQ - - cancer - - Lorenzato: UK, USA, Spain,(Fams: 317, 764.13, 5000, 2000, 3600, 4600, 6200, MCL-12, 11x USA) ; 19 families 23 affected - - United Kingdom (Great Britain); United States; Spain - - - - - 5 Jean-Pierre Bayley
?/+? 5 c.698G>A r.(?) p.(Arg233His) 0.06 - Parent #1 - 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 - - - - - RNA, DNA SEQ - - ? - - Netherlands; 1 family 1 affected - - United Kingdom (Great Britain); United States; Spain - - - - - 1 Jean-Pierre Bayley
?/+? 5 c.698G>A r.(?) p.(Arg233His) 0.25 - Parent #1 - 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 - - - - - DNA SEQ, SSCA, CSGE - - ? - - UK, not found in 300 chrom; 1 family 1 affected - - United Kingdom (Great Britain); United States; Spain - - - - - 1 Jean-Pierre Bayley
?/+? 5 c.698G>A r.(?) p.(Arg233His) - - Parent #1 - 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 - - - - - DNA SEQ - - ? - - 1 family 1 affected - - United Kingdom (Great Britain); United States; Spain - - - - - 1 Jean-Pierre Bayley
?/+? 5 c.698G>A r.(?) p.(Arg233His) - - Unknown - 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 - - - - - DNA SEQ - - cancer - - 1 isolated case - - United Kingdom (Great Britain); United States; Spain - - - - - 1 Jean-Pierre Bayley
?/? 5 c.698G>A r.(?) p.(Arg233His) - - Unknown - 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 - - - - - DNA HD, IHC, PCRm, MAPH, MLPA, PAGE, PCR, PTT, RT-PCR, SEQ - - cancer - - A second somatic mutation in tumor; 1 isolated case - - United Kingdom (Great Britain); United States; Spain - - - - - 1 Jean-Pierre Bayley
+/. - c.698G>A r.(?) p.(Arg233His) - - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.698G>A r.(?) p.(Arg233His) - - Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.698G>A r.(?) p.(Arg233His) - missense Unknown ACMG pathogenic (dominant) g.241671943C>T - - - FH_000048 ACMG: PS3, PS4, PM1, PP1_MOD, PM2_SUP - - rs121913123 Germline - - - - - DNA SEQ-NG-I Blood WES HLRCC 183583 - - F ? Germany - - - - - 1 Andreas Laner
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