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.

5 entries on 1 page. Showing entries 1 - 5.
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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.309C>T r.(=) p.(=) - - - VUS g.241676972G>A g.241513672G>A 309C>T (Ala103Ala) - FH_000016 - PubMed: Barker - rs10926501 Germline - - - 0 - Jean-Pierre Bayley
-/-? 3 c.309C>T r.(=) p.(=) - - - benign g.241676972G>A g.241513672G>A p.Ala60Ala - FH_000016 - - - rs10926501 Unknown - - - 0 - Audrey Remenieras
-/-? 3 c.309C>T r.(=) p.(=) - - - benign g.241676972G>A g.241513672G>A p.Ala60Ala - FH_000016 Fh activity : normal - - rs10926501 Unknown - - - 0 - Audrey Remenieras
-/. - c.309C>T r.(?) p.(Ala103=) - - - benign g.241676972G>A g.241513672G>A FH(NM_000143.3):c.309C>T (p.A103=) - FH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.309C>T r.(?) p.(Ala103=) - - - benign g.241676972G>A g.241513672G>A FH(NM_000143.3):c.309C>T (p.A103=) - FH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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