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     
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Tomlinson, PubMed: Wei - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Tomlinson, PubMed: Wei - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Tomlinson, PubMed: Wei - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Tomlinson, PubMed: Wei - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Tomlinson, PubMed: Wei - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Tomlinson, PubMed: Wei - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Tomlinson, PubMed: Wei - - Germline - - - 0 - Jean-Pierre Bayley
+?/+ 3 c.301C>T r.(?) p.(Arg101*) - - - likely pathogenic g.241676980G>A g.241513680G>A Arg58X, R58X, AAAins435 - FH_000014 UK, USA, not found in 620 chrom PubMed: Pollard - - Germline - - - 0 - Jean-Pierre Bayley
+/+ 3 c.301C>T r.(?) p.(Arg101*) - - - pathogenic g.241676980G>A g.241513680G>A p.Arg58X - FH_000014 FH enzymatic activity reduced PubMed: Pithukpakorn 2006 - - Unknown - - - 0 - Audrey Remenieras
+/. - c.301C>T r.(?) p.(Arg101Ter) - - - pathogenic g.241676980G>A g.241513680G>A - - FH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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