Transcript #00007945

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 -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

378 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predict/SIFT     

Predicted     
+?/+? 1 c.(?_-63)_(132+1_133-1)del - r.spl? p.? - -
+?/+? 1 c.(?_-63)_(132+1_133-1)del - r.spl? p.? - -
+?/+ 1_10 c.(?_-63)_(*271_?)del - r.? p.? 0 -
+?/+ 1_10 c.(?_-63)_(*271_?)del - r.? p.? 0.01 -
+?/+ 1_10 c.(?_-63)_(*271_?)del - r.? p.? 0 -
+?/+ 1_10 c.(?_-63)_(*271_?)del - r.? p.? 0 -
+?/+ 1_10 c.(?_-63)_(*271_?)del - r.? p.? 0 -
?/? 1_10 c.(?_-63)_(*271_?)del - r.? p.? 0.01 -
?/- 1 c.-11C>T - r.(=) p.(=) 0 -
?/? 1 c.-11C>T - r.(=) p.(=) 0.01 -
-?/. - c.-11C>T likely benign r.(?) p.(=) - -
-?/. - c.-11C>T likely benign r.(?) p.(=) - -
?/? - c.? - r.? p.? - -
?/. - c.7C>G VUS r.(?) p.(Arg3Gly) - -
?/. - c.7C>G VUS r.(?) p.(Arg3Gly) - -
?/. - c.7C>G VUS r.(?) p.(Arg3Gly) - -
-?/. - c.7C>G likely benign r.(?) p.(Arg3Gly) - -
-?/. - c.33G>C likely benign r.(?) p.(=) - -
-/. - c.53C>T benign r.(?) p.(Pro18Leu) - -
?/-? 1 c.105G>A - r.(=) p.(=) - -
-?/. - c.132+16C>A likely benign r.(=) p.(=) - -
-?/. - c.132+20C>T likely benign r.(=) p.(=) - -
-/-? 1i c.132+71C>A - r.(=) p.(=) - -
-/-? 1i c.132+71C>A - r.(=) p.(=) - -
+?/+ 2 c.139C>A - r.(?) p.(Gln47Lys) - -
+?/+ 2 c.139C>A - r.(?) p.(Gln47Lys) - -
+/. - c.139C>T - r.(?) p.(Gln47*) - -
?/+? 2 c.152G>A - r.(?) p.(Arg51Gln) - -
?/. 2 c.157G>A - r.(?) p.(Glu53Lys) damaging -
+/. - c.157G>T pathogenic r.(?) p.(Glu53*) - -
+?/+ 2 c.157G>T - r.(?) p.(Glu53*) - -
+/. - c.157G>T pathogenic r.(?) p.(Glu53*) - -
+?/+ 2 c.178del - r.(?) p.(Leu60*) - -
+?/+ 2_3 c.195_268del - r.(?) p.(Lys66Profs*4) - -
?/. 2 c.206G>T - r.(?) p.(Gly69Val) - -
-?/. - c.217G>A likely benign r.(?) p.(Val73Met) - -
+/+ 2 c.221del - r.(?) p.(Arg74Asnfs*4) - -
+?/+ 2 c.233del - r.(?) p.(Asn78Thrfs*7) 0.01 -
+?/+ 2 c.239dup - r.(?) p.(Ile81Aspfs*14) - -
+/+ 2 c.256_257del - r.(?) p.(Glu86Thrfs*8) - -
?/. - c.260G>A VUS r.(?) p.(Arg87His) - -
?/+ 2i c.267+1G>C - r.spl? p.(=) - -
+/+ 2i c.267+1_267+10del - r.spl? p.(=) - -
-/- 2i c.267+223A>T - r.(=) p.(=) - -
?/-? 2i c.268-87A>C - r.(=) p.(=) - -
-/. - c.268-22A>T benign r.(=) p.(=) - -
-/. - c.268-22A>T benign r.(=) p.(=) - -
-/. - c.268-22A>T - r.(=) p.(=) - -
-/. - c.268-22A>T benign r.(=) p.(=) - -
?/+ 2i c.268-2A>G - r.spl? p.(=) - -
+/. - c.268-1G>C pathogenic r.spl? p.? - -
+/+ 3 c.276del - r.(?) p.(Ile93Leufs*7) - -
?/. - c.290G>A VUS r.(?) p.(Gly97Asp) - -
+/. - c.301C>T pathogenic r.(?) p.(Arg101*) - -
+?/+ 3 c.301C>T - r.(?) p.(Arg101*) - -
+?/+ 3 c.301C>T - r.(?) p.(Arg101*) - -
+?/+ 3 c.301C>T - r.(?) p.(Arg101*) - -
+?/+ 3 c.301C>T - r.(?) p.(Arg101*) - -
+?/+ 3 c.301C>T - r.(?) p.(Arg101*) - -
+?/+ 3 c.301C>T - r.(?) p.(Arg101*) - -
+?/+ 3 c.301C>T - r.(?) p.(Arg101*) - -
+?/+ 3 c.301C>T - r.(?) p.(Arg101*) - -
+/+ 3 c.301C>T - r.(?) p.(Arg101*) - -
?/+? 3 c.302G>C - r.(?) p.(Arg101Pro) - -
?/. - c.308C>T VUS r.(?) p.(Ala103Val) - -
-/. - c.309C>T benign r.(?) p.(=) - -
-/. - c.309C>T benign r.(?) p.(=) - -
?/? 3 c.309C>T - r.(=) p.(=) - -
-/-? 3 c.309C>T - r.(=) p.(=) - -
-/-? 3 c.309C>T - r.(=) p.(=) - -
?/+? 3 c.320A>C - r.(?) p.(Asn107Thr) - -
?/+? 3 c.320A>C - r.(?) p.(Asn107Thr) - -
?/+? 3 c.320A>C - r.(?) p.(Asn107Thr) - -
?/+? 3 c.320A>C - r.(?) p.(Asn107Thr) - -
?/+? 3 c.320A>C - r.(?) p.(Asn107Thr) - -
?/+? 3 c.320A>C - r.(?) p.(Asn107Thr) - -
?/+? 3 c.320A>C - r.(?) p.(Asn107Thr) - -
?/+? 3 c.320A>C - r.(?) p.(Asn107Thr) - -
?/+? 3 c.320A>C - r.(?) p.(Asn107Thr) - -
+?/. - c.320A>T - r.(?) p.(Asn107Ile) - -
+/+ 3 c.349G>C - r.(?) p.(Ala117Pro) - -
+/+ 3 c.349G>C - r.(?) p.(Ala117Pro) - -
+/+ 3 c.349G>C - r.(?) p.(Ala117Pro) - -
+/+ 3 c.349G>C - r.(?) p.(Ala117Pro) 0.42 -
+/+ 3 c.349G>C - r.(?) p.(Ala117Pro) 0 -
+/+ 3 c.349G>C - r.(?) p.(Ala117Pro) 0 -
+/+ 3 c.349G>C - r.(?) p.(Ala117Pro) 0 -
+/+ 3 c.376_378+1delinsA - r.spl? p.? 1 -
+/+ 3 c.376_378+1delinsA - r.spl? p.? - -
+/. - c.378G>C pathogenic r.(?) p.(Glu126Asp) - -
+?/+? 3i c.378+1del - r.spl? p.(=) - -
+/. - c.378+2T>C pathogenic r.spl? p.? - -
-/. - c.378+145G>A benign r.(=) p.(=) - -
-?/. - c.379-49G>A likely benign r.(=) p.(=) - -
?/- 3i c.379-22A>T - r.(=) p.(=) - -
+/+? 3i c.379-2A>G - r.spl? p.(=) - -
+/+? 3i c.379-2A>G - r.spl? p.(=) - -
+/+? 3i c.379-2A>G - r.spl? p.(=) - -
+/. - c.379-1G>A pathogenic r.spl? p.? - -
?/+? 4 c.395T>C - r.(?) p.(Leu132Ser) - -
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