Transcript #00000390

Transcript name ATP-binding cassette, sub-family D (ALD), member 1
Gene name ABCD1 (ATP-binding cassette, sub-family D (ALD), member 1)
Chromosome X
Transcript - NCBI ID NM_000033.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000024.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

152 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
./. - c.-279916_*600717dup - r.0? p.0?
+/. 6_9i c.1601_(1991+1_1992-1)delins(?) - r.1601_1991delins88 p.?
+/. - c.1A>G pathogenic r.? p.?
-?/. - c.40A>G likely benign - -
?/. - c.41C>G VUS r.(?) p.(Thr14Arg)
-?/. - c.41C>G likely benign - -
+/. 1 c.57delC - r.57del p.Val20Cysfs*48
+/. - c.205_208delinsGGT pathogenic r.(?) p.(Arg69Glyfs*34)
-?/. - c.208G>C likely benign r.(?) p.(Val70Leu)
?/. - c.266G>A VUS r.(?) p.(Arg89Gln)
+/. 1 c.277delC - r.277del p.Leu93Cysfs*10
+?/. - c.290A>C likely pathogenic r.(?) p.(His97Pro)
+?/. - c.293C>G likely pathogenic r.(?) p.(Ser98Trp)
?/. - c.300C>G VUS r.(=) p.(=)
+/. 1 c.310C>T - r.310c>u p.Arg104Cys
?/. - c.359G>A VUS r.(?) p.(Arg120His)
-?/. - c.366C>A likely benign r.(=) p.(=)
-?/. - c.392G>T likely benign r.(?) p.(Gly131Val)
+/. 1 c.397C>T - r.397c>u p.Gln133*
+/. 1 c.411G>A - r.411g>a p.Trp137*
?/. - c.422C>A VUS r.(?) p.(Ala141Asp)
+/. 1 c.446G>A - r.446g>a p.Ser149Asn
+/. 1 c.455G>C - r.455g>c p.Arg152Pro
+/. 1 c.469C>T - r.469c>u p.Gln157*
+/. 1 c.488G>A - r.488g>a p.Arg163His
?/. - c.493C>T VUS r.(?) p.(Arg165Cys)
+/. 1 c.543C>A - r.543c>a p.Tyr181*
?/. - c.562G>A VUS r.(?) p.(Gly188Arg)
+/. 1 c.580G>C - r.580g>c p.Asp194His
-?/. - c.601G>A likely benign - -
?/. - c.617_624delinsTGCCACGTGGT VUS r.(?) p.(Ala206_Val208delinsValProArgGly)
+/. 1 c.659T>C - r.659u>c p.Leu220Pro
-?/. - c.757C>G likely benign r.(?) p.(Leu253Val)
?/. - c.757C>G VUS r.(?) p.(Leu253Val)
-/. - c.757C>G benign - -
+/. 1 c.785_791del - r.785_791del p.Ser262Cysfs*72
+/. 1 c.796G>A - r.796g>a p.Gly266Arg
?/. - c.838C>T VUS r.(?) p.(Arg280Cys)
?/. - c.848A>G VUS r.(?) p.(His283Arg)
-?/. - c.849C>T likely benign r.(=) p.(=)
+?/. - c.892G>A likely pathogenic r.(?) p.(Gly298Ser)
+?/. - c.901-5C>A likely pathogenic r.spl? p.?
-?/. - c.901-5C>T likely benign - -
+/. 2i_10_ c.1081+1375_*22761del - r.? p.?
+/. 2i_5i c.(1081+1_1082-1)_(1393+1_1394-1)del - r.? p.?
+/. 2i_5i c.(1081+1_1082-1)_(1393+1_1394-1)del - r.? p.?
?/. - c.1156A>T VUS r.(?) p.(Thr386Ser)
+?/. - c.1166G>A likely pathogenic r.(?) p.(Arg389His)
+/. 3 c.1166G>A - r.1166g>a p.Arg389His
+/. - c.1186G>A pathogenic r.(?) p.(Ala396Thr)
?/. - c.1261G>A VUS r.(?) p.(Glu421Lys)
?/. - c.1261G>A VUS r.(?) p.(Glu421Lys)
?/. - c.1334C>T VUS r.(?) p.(Ala445Val)
-?/. - c.1334C>T likely benign - -
+/. - c.1338dup pathogenic r.(?) p.(Ser447Valfs*109)
-?/. - c.1367G>A likely benign r.(?) p.(Arg456His)
+/. 5 c.1415_1416del - r.1415_1416del p.Gln472Argfs*83
+/. 5 c.1415_1416del - r.1415_1416del p.Gln472Argfs*83
+/. 5 c.1415_1416del - r.1415_1416del p.Gln472Argfs*83
+/. 5 c.1415_1416del - r.1415_1416del p.Gln472Argfs*83
+/. 5 c.1415_1416del - r.(?) p.(Gln472Argfs*83)
+/. 5 c.1415_1416del - r.1415_1416del p.Gln472Argfs*83
+/. 5 c.1415_1416del - r.1415_1416del p.Gln472Argfs*83
+/. 5 c.1415_1416del - r.1415_1416del p.Gln472Argfs*83
+/. 5 c.1415_1416del - r.1415_1416del p.Gln472Argfs*83
+/. - c.1419del pathogenic r.(?) p.(Ile474Serfs*84)
?/. - c.1438C>A VUS r.(?) p.(Pro480Thr)
+/. 5 c.1451C>G - r.(?) p.(Pro484Arg)
+/. 5 c.1451C>G - r.(?) p.(Pro484Arg)
+/. 5 c.1451C>G - r.1451c>g p.Pro484Arg
+/. 5 c.1451C>G - r.(?) p.(Pro484Arg)
+/. 5 c.1451C>G - r.(?) p.(Pro484Arg)
+/. 5 c.1451C>G - r.(?) p.(Pro484Arg)
?/. - c.1488+3A>G VUS r.spl? p.?
-?/. 5i c.1489-12T>G - r.(?) p.(=)
-?/. - c.1489-9del likely benign r.(=) p.(=)
-?/. - c.1489-6del likely benign r.(=) p.(=)
-/. - c.1548G>A benign r.(=) p.(=)
-/. - c.1548G>A benign r.(=) p.(=)
-?/. 6 c.1548G>A - r.(=) p.(=)
?/. 6 c.1548G>A - r.(?) p.(Leu516=)
+?/. - c.1552C>T likely pathogenic r.(?) p.(Arg518Trp)
+/. 6 c.1553G>A - r.(?) p.(Arg518Gln)
+/. 6i c.1635-2A>G - r.1635_1668del p.Pro546*
+/. 7 c.1661G>A - r.(?) p.(Arg554His)
+?/. - c.1667A>T - r.(?) p.(Gln556Leu)
-?/. - c.1683C>T likely benign - -
?/. - c.1699C>T VUS r.(?) p.(Gln567*)
-?/. - c.1699C>T likely benign - -
-?/. - c.1700A>G likely benign - -
-/. - c.1744G>A benign r.(?) p.(Val582Ile)
-/. - c.1744G>A benign r.(?) p.(Val582Ile)
-/. - c.1748T>A benign r.(?) p.(Val583Glu)
-?/. - c.1748T>A likely benign r.(?) p.(Val583Glu)
-/. - c.1748T>A benign r.(?) p.(Val583Glu)
?/. - c.1780+168_1780+169insGCATGGGTG - - p.(=)
?/. - c.1781-150A>G - - p.(=)
-?/. - c.1781-7C>T likely benign r.(=) p.(=)
?/. - c.1816T>C VUS r.(?) p.(Ser606Pro)
?/. - c.1816T>C - - p.(Ser606Pro)
Legend   « First ‹ Prev     1 2     Next › Last »