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.

7 entries on 1 page. Showing entries 1 - 7.
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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     
?/? 4 c.521C>G r.(?) p.(Pro174Arg) 0.15 - - VUS g.241675301G>C g.241512001G>C 392C>G/P131R - FH_000030 - PubMed: Alam - - Germline - - - 0 - Jean-Pierre Bayley
?/? 4 c.521C>G r.(?) p.(Pro174Arg) - - - VUS g.241675301G>C g.241512001G>C 392C>G/P131R - FH_000030 - PubMed: Zeng - - Germline - - - 0 - Jean-Pierre Bayley
?/? 4 c.521C>G r.(?) p.(Pro174Arg) - - - VUS g.241675301G>C g.241512001G>C 392C>G/P131R - FH_000030 - PubMed: Pollard - - Germline - - - 0 - Jean-Pierre Bayley
?/? 4 c.521C>G r.(?) p.(Pro174Arg) - - - VUS g.241675301G>C g.241512001G>C 492C to G, P131R - FH_000030 - Kimonis VE, Shih K, Mandell R, Shih VE. - - Germline - - - 0 - Jean-Pierre Bayley
+/. - c.521C>G r.(?) p.(Pro174Arg) - - - pathogenic g.241675301G>C g.241512001G>C FH(NM_000143.3):c.521C>G (p.P174R) - FH_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.521C>G r.(?) p.(Pro174Arg) - missense - likely pathogenic g.241675301G>C g.241512001G>C - - FH_000030 - - - - Germline - - - 0 - James Whitworth
+?/. - c.521C>G r.(?) p.(Pro174Arg) - - - likely pathogenic g.241675301G>C g.241512001G>C FH(NM_000143.3):c.521C>G (p.P174R) - FH_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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