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.

8 entries on 1 page. Showing entries 1 - 8.
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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.689A>G r.(?) p.(Lys230Arg) - - - pathogenic g.241671952T>C g.241508652T>C Lys187Arg, K187R - FH_000045 UK, not found in 300 chrom PubMed: Tomlinson - - Germline - - - 0 - Jean-Pierre Bayley
?/+? 5 c.689A>G r.(?) p.(Lys230Arg) - - - VUS g.241671952T>C g.241508652T>C Lys187Arg, K187R - FH_000045 UK, not found in 300 chrom PubMed: Coughlin, PubMed: Manning - - Germline - - - 0 - Jean-Pierre Bayley
?/+? 5 c.689A>G r.(?) p.(Lys230Arg) - - - VUS g.241671952T>C g.241508652T>C Lys187Arg, K187R - FH_000045 UK, not found in 300 chrom PubMed: Coughlin, PubMed: Manning - - Germline - - - 0 - Jean-Pierre Bayley
?/+? 5 c.689A>G r.(?) p.(Lys230Arg) - - - VUS g.241671952T>C g.241508652T>C Lys187Arg, K187R - FH_000045 UK, not found in 300 chrom PubMed: Pollard - - Germline - - - 0 - Jean-Pierre Bayley
?/+? 5 c.689A>G r.(?) p.(Lys230Arg) - - - VUS g.241671952T>C g.241508652T>C Lys187Arg, K187R - FH_000045 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Toro - - Germline yes - - 0 - Jean-Pierre Bayley
?/+? 5 c.689A>G r.(?) p.(Lys230Arg) - - - VUS g.241671952T>C g.241508652T>C Lys187Arg, K187R - FH_000045 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Toro - - Germline yes - - 0 - Jean-Pierre Bayley
?/+? 5 c.689A>G r.(?) p.(Lys230Arg) 0 - - VUS g.241671952T>C g.241508652T>C Lys187Arg, K187R - FH_000045 UK, not found in 300 chrom PubMed: Tomlinson, PubMed: Alam, PubMed: Toro - - Germline yes - - 0 - Jean-Pierre Bayley
+/. - c.689A>G r.(?) p.(Lys230Arg) - - - pathogenic g.241671952T>C g.241508652T>C - - FH_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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