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

54 entries on 1 page. Showing entries 1 - 54.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
-/. - c.-105G>C benign r.(?) p.(=)
-?/. - c.14C>G likely benign r.(?) p.(Pro5Arg)
-/. - c.82-13G>A benign r.(=) p.(=)
-/. - c.82-13G>A benign r.(=) p.(=)
-/. - c.82-13G>A benign r.(=) p.(=)
-?/. - c.150T>C likely benign r.(?) p.(=)
-/. - c.181G>T benign r.(?) p.(Val61Phe)
-?/. - c.181G>T likely benign r.(?) p.(Val61Phe)
+/. - c.190C>T pathogenic r.(?) p.(Gln64*)
+?/. - c.192G>C likely pathogenic r.(?) p.(Gln64His)
+?/. - c.192G>T likely pathogenic r.(?) p.(Gln64His)
-/. - c.193-23T>C benign r.(=) p.(=)
-?/. - c.231C>T likely benign r.(?) p.(=)
-?/. - c.267G>C likely benign r.(?) p.(=)
-/. - c.267G>C benign r.(?) p.(=)
-?/. - c.314+26dup likely benign r.(=) p.(=)
-/. - c.314+49G>A benign r.(=) p.(=)
-/. - c.315-14G>A benign r.(=) p.(=)
-/. - c.315-14G>A benign r.(=) p.(=)
?/. - c.315-3C>G VUS r.spl? p.?
+?/. - c.398A>C likely pathogenic r.(?) p.(His133Pro)
+/. 5 c.424A>G - r.(?) p.(Arg142Gly)
-/. - c.483C>T benign r.(?) p.(=)
+/. - c.497T>G pathogenic r.(?) p.(Val166Gly)
-?/. - c.553+10C>T likely benign r.(=) p.(=)
-/. - c.554-15C>T benign r.(=) p.(=)
+/. - c.554-1G>T pathogenic r.spl? p.?
+/. - c.578G>A pathogenic r.(?) p.(Cys193Tyr)
+/. - c.607-1G>A pathogenic r.spl? p.?
?/. - c.608C>T VUS r.(?) p.(Ala203Val)
?/. - c.674T>G VUS r.(?) p.(Ile225Ser)
+/. - c.709C>T pathogenic r.(?) p.(Arg237*)
?/. - c.782C>T VUS r.(?) p.(Pro261Leu)
?/. - c.837+2T>C VUS r.spl? p.?
?/. - c.974C>T VUS r.(?) p.(Thr325Met)
-?/. - c.1008C>T likely benign r.(?) p.(=)
-/. - c.1021C>T benign r.(?) p.(Arg341Trp)
?/. 12 c.1021C>T - r.(?) p.(Arg341Trp)
?/. 12 c.1021C>T - r.(?) p.(Arg341Trp)
-?/. - c.1021C>T likely benign r.(?) p.(Arg341Trp)
-?/. - c.1021C>T likely benign r.(?) p.(Arg341Trp)
?/. - c.1025C>T VUS r.(?) p.(Pro342Leu)
-/. - c.1056C>T benign r.(?) p.(=)
-/. - c.1056C>T benign r.(?) p.(=)
?/. - c.1062+5G>A VUS r.spl? p.?
+?/. - c.1062+5G>A likely pathogenic r.spl? p.?
?/. - c.1069G>T VUS r.(?) p.(Glu357*)
+/. - c.1090G>T pathogenic r.(?) p.(Glu364*)
+?/. - c.1097_1099del likely pathogenic r.(?) p.(Ser366del)
-?/. - c.1164T>C likely benign r.(?) p.(=)
-/. - c.1209C>T benign r.(?) p.(=)
-/. - c.1259G>A benign r.(?) p.(=)
-/. - c.1259G>A benign r.(?) p.(=)
-?/. - c.1259G>A likely benign r.(?) p.(=)
Legend