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.

3 entries on 1 page. Showing entries 1 - 3.
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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.563A>G r.(?) p.(Asn188Ser) - - - VUS g.241672078T>C g.241508778T>C - - FH_000038 HGMD - - - Germline - - - 0 - Andreas Laner
?/+? 5 c.563A>G r.(?) p.(Asn188Ser) - - - VUS g.241672078T>C g.241508778T>C N145S - FH_000038 not found in 420 chrom PubMed: Toro 2003 - - Germline yes - - 0 - Jean-Pierre Bayley
+/. - c.563A>G r.(?) p.(Asn188Ser) - - - pathogenic g.241672078T>C g.241508778T>C - - FH_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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