Transcript #00024150

Transcript name fumarylacetoacetate hydrolase (fumarylacetoacetase)
Gene name FAH (fumarylacetoacetate hydrolase (fumarylacetoacetase))
Chromosome 15
Transcript - NCBI ID NM_000137.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000128.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

60 entries on 1 page. Showing entries 1 - 60.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-105G>C r.(?) p.(=)
?/. - c.1A>G r.(?) p.(Met1?)
-?/. - c.14C>G r.(?) p.(Pro5Arg)
-/. - c.82-13G>A r.(=) p.(=)
-/. - c.82-13G>A r.(=) p.(=)
-/. - c.82-13G>A r.(=) p.(=)
-?/. - c.150T>C r.(?) p.(Phe50=)
-/. - c.181G>T r.(?) p.(Val61Phe)
-?/. - c.181G>T r.(?) p.(Val61Phe)
+/. - c.190C>T r.(?) p.(Gln64Ter)
+?/. - c.192G>C r.(?) p.(Gln64His)
+?/. - c.192G>T r.(?) p.(Gln64His)
+/. - c.192G>T r.(?) p.(Gln64His)
-/. - c.193-23T>C r.(=) p.(=)
-?/. - c.231C>T r.(?) p.(Ala77=)
-?/. - c.267G>C r.(?) p.(Leu89=)
-/. - c.267G>C r.(?) p.(Leu89=)
-?/. - c.306T>C r.(?) p.(Leu102=)
-?/. - c.314+26dup r.(=) p.(=)
-/. - c.314+49G>A r.(=) p.(=)
-/. - c.315-14G>A r.(=) p.(=)
-/. - c.315-14G>A r.(=) p.(=)
?/. - c.315-3C>G r.spl? p.?
+?/. - c.398A>C r.(?) p.(His133Pro)
+/. 5 c.424A>G r.(?) p.(Arg142Gly)
-/. - c.483C>T r.(?) p.(Gly161=)
+/. - c.497T>G r.(?) p.(Val166Gly)
-?/. - c.553+10C>T r.(=) p.(=)
-/. - c.554-15C>T r.(=) p.(=)
+/. - c.554-1G>T r.spl? p.?
+/. - c.578G>A r.(?) p.(Cys193Tyr)
+/. - c.607-1G>A r.spl? p.?
?/. - c.608C>T r.(?) p.(Ala203Val)
?/. - c.674T>G r.(?) p.(Ile225Ser)
+/. - c.709C>T r.(?) p.(Arg237Ter)
?/. - c.782C>T r.(?) p.(Pro261Leu)
?/. - c.837+2T>C r.spl? p.?
-/. - c.921A>G r.(?) p.(Gly307=)
?/. - c.974C>T r.(?) p.(Thr325Met)
-?/. - c.1008C>T r.(?) p.(Asn336=)
+?/. - c.1009G>A r.(?) p.(Gly337Ser)
-/. - c.1021C>T r.(?) p.(Arg341Trp)
?/. 12 c.1021C>T r.(?) p.(Arg341Trp)
?/. 12 c.1021C>T r.(?) p.(Arg341Trp)
-?/. - c.1021C>T r.(?) p.(Arg341Trp)
-?/. - c.1021C>T r.(?) p.(Arg341Trp)
?/. - c.1021C>T r.(?) p.(Arg341Trp)
?/. - c.1025C>T r.(?) p.(Pro342Leu)
-/. - c.1056C>T r.(?) p.(Ser352=)
-/. - c.1056C>T r.(?) p.(Ser352=)
?/. - c.1062+5G>A r.spl? p.?
+?/. - c.1062+5G>A r.spl? p.?
?/. - c.1069G>T r.(?) p.(Glu357Ter)
+/. - c.1090G>T r.(?) p.(Glu364Ter)
+?/. - c.1097_1099del r.(?) p.(Ser366del)
-?/. - c.1164T>C r.(?) p.(Asp388=)
-/. - c.1209C>T r.(?) p.(Ile403=)
-/. - c.1259G>A r.(?) p.(Ter420=)
-/. - c.1259G>A r.(?) p.(Ter420=)
-?/. - c.1259G>A r.(?) p.(Ter420=)
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