Transcript #00000390 (NM_000033.3, ABCD1 gene)

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

195 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-279916_*600717dup r.0? p.0?
-?/. - c.-4394G>A r.(?) p.(=)
?/. - c.-4318C>T r.(?) p.(=)
-?/. - c.-2118A>G r.(?) p.(=)
?/. - c.-2011_-2009del r.(?) p.(=)
-?/. - c.-2011_-2009del r.(?) p.(=)
?/. - c.-1756C>T r.(?) p.(=)
-?/. - c.-1741G>A r.(?) p.(=)
?/. - c.-1741G>A r.(?) p.(=)
-?/. - c.-1259G>T r.(?) p.(=)
?/. - c.31C>G r.(?) p.(Arg11Gly)
-?/. - c.36G>A r.(?) p.(Gly12=)
-?/. - c.38A>C r.(?) p.(Asn13Thr)
-?/. - c.38A>C r.(?) p.(Asn13Thr)
-?/. - c.38A>C r.(?) p.(Asn13Thr)
-?/. - c.38A>C r.(?) p.(Asn13Thr)
-?/. - c.40A>G r.(?) p.(Thr14Ala)
-?/. - c.40A>G r.(?) p.(Thr14Ala)
-?/. - c.41C>G r.(?) p.(Thr14Arg)
-?/. - c.41C>G r.(?) p.(Thr14Arg)
+/. 1 c.57del r.57del p.Val20Cysfs*48
-?/. - c.208G>C r.(?) p.(Val70Leu)
-?/. - c.249C>T r.(?) p.(Phe83=)
+/. 1 c.277del r.277del p.Leu93Cysfs*10
+?/. - c.290A>C r.(?) p.(His97Pro)
+?/. - c.293C>G r.(?) p.(Ser98Trp)
-?/. - c.297C>T r.(?) p.(Ala99=)
?/. - c.300C>G r.(?) p.(Ala100=)
+/. 1 c.310C>T r.310c>u p.Arg104Cys
+/. - c.314C>T r.(?) p.(Thr105Ile)
+/. - c.337C>T r.(?) p.(Arg113Cys)
?/. - c.359G>A r.(?) p.(Arg120His)
-?/. - c.366C>A r.(?) p.(Ile122=)
-?/. - c.392G>T r.(?) p.(Gly131Val)
-?/. - c.392G>T r.(?) p.(Gly131Val)
+/. 1 c.397C>T r.397c>u p.Gln133*
+/. 1 c.411G>A r.411g>a p.Trp137*
?/. - c.422C>A r.(?) p.(Ala141Asp)
+/. 1 c.446G>A r.446g>a p.Ser149Asn
+/. - c.454C>T r.(?) p.(Arg152Cys)
+/. 1 c.455G>C r.455g>c p.Arg152Pro
+/. 1 c.469C>T r.469c>u p.Gln157*
-?/. - c.474G>A r.(?) p.(Leu158=)
-?/. - c.475G>A r.(?) p.(Ala159Thr)
+/. 1 c.488G>A r.488g>a p.Arg163His
?/. - c.493C>T r.(?) p.(Arg165Cys)
+/. - c.529C>T r.(?) p.(Gln177Ter)
+/. 1 c.543C>A r.543c>a p.Tyr181*
-?/. - c.561C>T r.(?) p.(Asp187=)
?/. - c.562G>A r.(?) p.(Gly188Arg)
+/. - c.565del r.(?) p.(Arg189GlyfsTer9)
+/. 1 c.580G>C r.580g>c p.Asp194His
+/. 1 c.659T>C r.659u>c p.Leu220Pro
+/. - c.659T>C r.(?) p.(Leu220Pro)
-?/. - c.707G>A r.(?) p.(Arg236His)
?/. - c.742G>A r.(?) p.(Gly248Ser)
-?/. - c.757C>G r.(?) p.(Leu253Val)
-?/. - c.757C>G r.(?) p.(Leu253Val)
-?/. - c.757C>G r.(?) p.(Leu253Val)
?/. - c.757C>G r.(?) p.(Leu253Val)
+/. 1 c.785_791del r.785_791del p.Ser262Cysfs*72
+/. 1 c.796G>A r.796g>a p.Gly266Arg
?/. - c.838C>T r.(?) p.(Arg280Cys)
+/. - c.843C>A r.(?) p.(Tyr281Ter)
?/. - c.848A>G r.(?) p.(His283Arg)
-?/. - c.849C>T r.(?) p.(His283=)
+?/. - c.892G>A r.(?) p.(Gly298Ser)
?/. - c.896A>G r.(?) p.(His299Arg)
-?/. - c.901-16C>T r.(=) p.(=)
+?/. - c.901-5C>A r.spl? p.?
-?/. - c.901-5C>T r.spl? p.?
+/. 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.1117A>G r.(?) p.(Lys373Glu)
-?/. - c.1127A>C r.(?) p.(Glu376Ala)
?/. - c.1156A>T r.(?) p.(Thr386Ser)
+?/. - c.1166G>A r.(?) p.(Arg389His)
+/. 3 c.1166G>A r.1166g>a p.Arg389His
+/. - c.1166G>A r.(?) p.(Arg389His)
+/. - c.1186G>A r.(?) p.(Ala396Thr)
?/. - c.1261G>A r.(?) p.(Glu421Lys)
?/. - c.1261G>A r.(?) p.(Glu421Lys)
+/. - c.1288C>T r.(?) p.(Gln430*)
?/. - c.1334C>T r.(?) p.(Ala445Val)
?/. - c.1334C>T r.(?) p.(Ala445Val)
?/. - c.1334C>T r.(?) p.(Ala445Val)
+?/. - c.1364dup r.(?) p.(Arg456Profs*100)
-?/. - c.1367G>A r.(?) p.(Arg456His)
+/. - 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
+/. 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.1438C>A r.(?) p.(Pro480Thr)
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