All transcript variants in gene FAH

Information The variants shown are described using the NM_000137.2 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-/. - c.-105G>C benign r.(?) p.(=) g.80445292G>C - FAH(NM_000137.2):c.-105G>C - FAH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.14C>G likely benign r.(?) p.(Pro5Arg) g.80445410C>G - - - FAH_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.82-13G>A benign r.(=) p.(=) g.80450389G>A - FAH(NM_000137.2):c.82-13G>A - FAH_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.82-13G>A benign r.(=) p.(=) g.80450389G>A - FAH(NM_000137.2):c.82-13G>A - FAH_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.82-13G>A benign r.(=) p.(=) g.80450389G>A - FAH(NM_000137.2):c.82-13G>A - FAH_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.150T>C likely benign r.(?) p.(=) g.80450470T>C - FAH(NM_000137.2):c.150T>C (p.F50=) - FAH_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.181G>T benign r.(?) p.(Val61Phe) g.80450501G>T - FAH(NM_000137.2):c.181G>T (p.V61F, p.(Val61Phe)) - FAH_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.181G>T likely benign r.(?) p.(Val61Phe) g.80450501G>T - FAH(NM_000137.2):c.181G>T (p.V61F, p.(Val61Phe)) - FAH_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.190C>T pathogenic r.(?) p.(Gln64*) g.80450510C>T - - - FAH_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.192G>C likely pathogenic r.(?) p.(Gln64His) g.80450512G>C - FAH(NM_000137.2):c.192G>C (p.Q64H) - FAH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.192G>T likely pathogenic r.(?) p.(Gln64His) g.80450512G>T - FAH(NM_000137.2):c.192G>T (p.Q64H) - FAH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.193-23T>C benign r.(=) p.(=) g.80452075T>C - FAH(NM_000137.2):c.193-23T>C - FAH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.231C>T likely benign r.(?) p.(=) g.80452136C>T - FAH(NM_000137.2):c.231C>T (p.A77=) - FAH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.267G>C benign r.(?) p.(=) g.80452172G>C - FAH(NM_000137.2):c.267G>C (p.L89=) - FAH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.267G>C likely benign r.(?) p.(=) g.80452172G>C - FAH(NM_000137.2):c.267G>C (p.L89=) - FAH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.314+26dup likely benign r.(=) p.(=) g.80452245dup - FAH(NM_000137.2):c.314+26dupG - FAH_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.314+49G>A benign r.(=) p.(=) g.80452268G>A - FAH(NM_000137.2):c.314+49G>A - FAH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.315-14G>A benign r.(=) p.(=) g.80452738G>A - FAH(NM_000137.2):c.315-14G>A - FAH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.315-14G>A benign r.(=) p.(=) g.80452738G>A - FAH(NM_000137.2):c.315-14G>A - FAH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.315-3C>G VUS r.spl? p.? g.80452749C>G - FAH(NM_000137.2):c.315-3C>G (p.?) - FAH_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. - c.398A>C likely pathogenic r.(?) p.(His133Pro) g.80454621A>C - - - FAH_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 5 c.424A>G - r.(?) p.(Arg142Gly) g.80454647A>G g.80162305A>G - - FAH_000002 - - - - Germline - - - 0 - Patrick R. Blackburn
-/. - c.483C>T benign r.(?) p.(=) g.80460421C>T - FAH(NM_000137.2):c.483C>T (p.G161=) - FAH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.497T>G pathogenic r.(?) p.(Val166Gly) g.80460435T>G - FAH(NM_000137.2):c.497T>G (p.V166G) - FAH_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.553+10C>T likely benign r.(=) p.(=) g.80460501C>T - FAH(NM_000137.2):c.553+10C>T - FAH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.554-15C>T benign r.(=) p.(=) g.80460591C>T - FAH(NM_000137.2):c.554-15C>T - FAH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.554-1G>T pathogenic r.spl? p.? g.80460605G>T - FAH(NM_000137.2):c.554-1G>T - FAH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.578G>A pathogenic r.(?) p.(Cys193Tyr) g.80460630G>A - FAH(NM_000137.2):c.578G>A (p.C193Y) - FAH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.607-1G>A pathogenic r.spl? p.? g.80464490G>A - FAH(NM_000137.2):c.607-1G>A - FAH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.608C>T VUS r.(?) p.(Ala203Val) g.80464492C>T - FAH(NM_000137.2):c.608C>T (p.A203V) - FAH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.674T>G VUS r.(?) p.(Ile225Ser) g.80464558T>G - FAH(NM_000137.2):c.674T>G (p.I225S) - FAH_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.709C>T pathogenic r.(?) p.(Arg237*) g.80465358C>T - FAH(NM_000137.2):c.709C>T (p.R237*) - FAH_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.782C>T VUS r.(?) p.(Pro261Leu) g.80465431C>T - FAH(NM_000137.2):c.782C>T (p.P261L) - FAH_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.837+2T>C VUS r.spl? p.? g.80465488T>C - FAH(NM_000137.2):c.837+2T>C - FAH_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.974C>T VUS r.(?) p.(Thr325Met) g.80472479C>T - FAH(NM_000137.2):c.974C>T (p.T325M) - FAH_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1008C>T likely benign r.(?) p.(=) g.80472513C>T - FAH(NM_000137.2):c.1008C>T (p.N336=) - FAH_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. 12 c.1021C>T - r.(?) p.(Arg341Trp) g.80472526C>T g.80180184C>T - - FAH_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
?/. 12 c.1021C>T - r.(?) p.(Arg341Trp) g.80472526C>T g.80180184C>T - - FAH_000001 - - - - Germline - - - 0 - Gerard C.P. Schaafsma
-?/. - c.1021C>T likely benign r.(?) p.(Arg341Trp) g.80472526C>T - FAH(NM_000137.2):c.1021C>T (p.R341W) - FAH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1021C>T benign r.(?) p.(Arg341Trp) g.80472526C>T - FAH(NM_000137.2):c.1021C>T (p.R341W) - FAH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1021C>T likely benign r.(?) p.(Arg341Trp) g.80472526C>T - FAH(NM_000137.2):c.1021C>T (p.R341W) - FAH_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1025C>T VUS r.(?) p.(Pro342Leu) g.80472530C>T - FAH(NM_000137.2):c.1025C>T (p.P342L) - FAH_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-/. - c.1056C>T benign r.(?) p.(=) g.80472561C>T - FAH(NM_000137.2):c.1056C>T (p.S352=) - FAH_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1056C>T benign r.(?) p.(=) g.80472561C>T - FAH(NM_000137.2):c.1056C>T (p.S352=) - FAH_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1062+5G>A VUS r.spl? p.? g.80472572G>A - FAH(NM_000137.2):c.1062+5G>A - FAH_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+?/. - c.1062+5G>A likely pathogenic r.spl? p.? g.80472572G>A - FAH(NM_000137.2):c.1062+5G>A - FAH_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1069G>T VUS r.(?) p.(Glu357*) g.80473390G>T - FAH(NM_000137.2):c.1069G>T (p.E357*) - FAH_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.1090G>T pathogenic r.(?) p.(Glu364*) g.80473411G>T - FAH(NM_000137.2):c.1090G>T (p.E364*) - FAH_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+?/. - c.1097_1099del likely pathogenic r.(?) p.(Ser366del) g.80473418_80473420del - FAH(NM_000137.2):c.1097_1099delCGT (p.S366del) - FAH_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.1164T>C likely benign r.(?) p.(=) g.80473485T>C - - - FAH_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. - c.1209C>T benign r.(?) p.(=) g.80478500C>T - FAH(NM_000137.2):c.1209C>T (p.I403=) - FAH_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.1259G>A likely benign r.(?) p.(=) g.80478550G>A - FAH(NM_000137.2):c.1259G>A (p.*420=) - FAH_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1259G>A benign r.(?) p.(=) g.80478550G>A - FAH(NM_000137.2):c.1259G>A (p.*420=) - FAH_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1259G>A benign r.(?) p.(=) g.80478550G>A - FAH(NM_000137.2):c.1259G>A (p.*420=) - FAH_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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