Transcript #00000086

Transcript name fumarate hydratase
Gene name FH (fumarate hydratase)
Chromosome 1
Transcript - NCBI ID NM_000143.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000134.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

73 entries on 1 page. Showing entries 1 - 73.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-11C>T r.(=) p.(=)
./. - c.-11C>T r.(=) p.(=)
./. - c.41T>C r.(?) p.(Leu14Pro)
./. - c.73G>A r.(?) p.(Ala25Thr)
./. - c.73G>A r.(?) p.(Ala25Thr)
./. - c.77C>T r.(?) p.(Pro26Leu)
./. - c.178C>T r.(=) p.(=)
./. - c.178C>T r.(=) p.(=)
./. - c.207C>T r.(=) p.(=)
./. - c.207C>T r.(=) p.(=)
./. - c.310G>A r.(?) p.(Ala104Thr)
./. - c.346A>T r.(?) p.(Ile116Phe)
./. - c.358A>G r.(?) p.(Ile120Val)
./. - c.358A>G r.(?) p.(Ile120Val)
./. - c.358A>G r.(?) p.(Ile120Val)
./. - c.415G>A r.(?) p.(Val139Met)
./. - c.540T>C r.(=) p.(=)
./. - c.555+27_555+28insT r.(=) p.(=)
./. - c.556-4A>G r.spl? p.?
./. - c.556-4A>G r.spl? p.?
./. - c.580G>A r.(?) p.(Ala194Thr)
./. - c.580G>A r.(?) p.(Ala194Thr)
./. - c.580G>A r.(?) p.(Ala194Thr)
./. - c.601A>G r.(?) p.(Ile201Val)
./. - c.602T>C r.(?) p.(Ile201Thr)
./. - c.611A>G r.(?) p.(His204Arg)
./. - c.611A>G r.(?) p.(His204Arg)
./. - c.618A>G r.(=) p.(=)
./. - c.620T>C r.(?) p.(Leu207Pro)
./. - c.655G>A r.(?) p.(Asp219Asn)
./. - c.739-7_739-3del r.spl? p.?
./. - c.741A>G r.(=) p.(=)
./. - c.765A>G r.(=) p.(=)
./. - c.904+39C>G r.(=) p.(=)
./. - c.904+51T>C r.(=) p.(=)
./. - c.904+51T>C r.(=) p.(=)
./. - c.905-39A>G r.(=) p.(=)
./. - c.905-39A>G r.(=) p.(=)
./. - c.905-39A>G r.(=) p.(=)
./. - c.905-39A>G r.(=) p.(=)
./. - c.905-39A>G r.(=) p.(=)
./. - c.905-39A>G r.(=) p.(=)
./. - c.915T>G r.(?) p.(Phe305Leu)
./. - c.969G>A r.(=) p.(=)
./. - c.1127A>C r.(?) p.(Gln376Pro)
./. - c.1127A>C r.(?) p.(Gln376Pro)
./. - c.1127A>C r.(?) p.(Gln376Pro)
./. - c.1202G>C r.(?) p.(Gly401Ala)
./. - c.1237-51G>C r.(=) p.(=)
./. - c.1237-17_1237-16insTCTCTC r.(=) p.(=)
./. - c.1237-16_1237-13del r.(=) p.(=)
./. - c.1237-15_1237-14insTCTC r.(=) p.(=)
./. - c.1237-15_1237-14insTCTC r.(=) p.(=)
./. - c.1237-15_1237-14insTCTC r.(=) p.(=)
./. - c.1237-15_1237-14insTCTCTCTC r.(=) p.(=)
./. - c.1237-14_1237-13del r.(=) p.(=)
./. - c.1237-14_1237-13del r.(=) p.(=)
./. - c.1237-14_1237-13del r.(=) p.(=)
./. - c.1237-14_1237-13del r.(=) p.(=)
./. - c.1237-14_1237-13del r.(=) p.(=)
./. - c.1237-14_1237-13del r.(=) p.(=)
./. - c.1237-14_1237-13dup r.(=) p.(=)
./. - c.1237-14_1237-13dup r.(=) p.(=)
./. - c.1322A>G r.(?) p.(Asn441Ser)
./. - c.1390+36G>A r.(=) p.(=)
./. - c.1390+36G>A r.(=) p.(=)
./. - c.1390+36G>A r.(=) p.(=)
./. - c.1391-3C>G r.spl? p.?
./. - c.1433_1434insAAA r.(?) p.(Lys477dup)
./. - c.1459A>G r.(?) p.(Ile487Val)
./. - c.*29_*30del r.(=) p.(=)
./. - c.*36A>C r.(=) p.(=)
./. - c.*42A>G r.(=) p.(=)
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