Transcript #00001067

Transcript name transcript variant 1
Gene name IDS (iduronate 2-sulfatase)
Chromosome X
Transcript - NCBI ID NM_000202.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_000193.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

437 entries on 5 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+/. 1i c.?inv - r.? p.?
+/. _1_1i c.(?_-217)_(103+1_104-1)del) - r.0? p.0?
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.?
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.?
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.?
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.?
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.?
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.?
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.?
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.?
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.?
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.0
+/. 1_7i c.(?_-217)_(1006+1_1007-1)inv - r.? p.?
+/. _1_7i c.(?_-217)_(1006+1_1107-1)inv - r.? p.?
+/. _1_7i c.(?_-217)_(1006+1_1107-1)inv - r.? p.?
+/. _1_7i c.(?_-217)_(1006+1_1107-1)inv - r.? p.?
+/. _1_9_ c.(?_-217)_(*3982_?)del - r.0 p.0
+/. 1_6i c.(?_-199)_(879+1_880-1)del - r.0 p.0
+/. 1_6i c.(?_-199)_(879+1_880-1)del - r.0 p.0
+/. _1_9_ c.(?_-199)_(*3979_?)del - r.0 p.0
+/. _1_9_ c.(?_-199)_(*3979_?)del - r.0 p.0
+/. _1_9_ c.(?_-199)_(*3979_?)del - r.0 p.0
+/. _1_9_ c.(?_-199)_(*3979_?)del - r.0 p.0
+/. _1_9_ c.(?_-199)_(*3979_?)del - r.0 p.0
+/. _1_9_ c.(?_-199)_(*3979_?)del - r.0 p.0
+/. _1_9_ c.(?_-199)_(*3979_?)del - r.0 p.0
+/. _1_9_ c.(?_-199)_(*3979_?)del - r.0 p.0
+/. _1_9_ c.(?_-199)_(*3979_?)del - r.0 p.0
+/. _1_9_ c.(?_-199)_(*3979_?)del - r.0 p.0
+/. _1_9_ c.(?_-199)_(*3979_?)del - r.0 p.0
+/. _1_9_ c.(?_-199)_(*3979_?)del - r.0 p.0
+/. _1_9_ c.(?_-199)_(*3979_?)del - r.0 p.0
+/. _1_9_ c.(?_-199)_(*3979_?)del - r.0 p.0
+/. _1_9_ c.(?_-199)_(*3979_?)del - r.0 p.0
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. _1_9_ c.(?_-1)_(*1_?)del - r.0 p.0
+/. 7i_8i c.(1007-10_1180+10)? - r.1007_1180del p.(Trp337_Gly394del)
+/. 8 c.(1007-2_1007-1)? - r.1007_1018del p.Trp337_Gly340del
+/. 3 c.(285_288)[del3] pathogenic r.(?) p.(Arg96del)
+/. 3i_7i c.240+12_(1006+1_1007-1)delins(?) - r.[241_1006del, 419_1006del] p.[Gln81Glyfs*4, Ile141_Gly336del]
+/. 3i c.419-?_?del - r.del p.del
-?/. - c.19G>C likely benign r.(?) p.(Gly7Arg)
+/. 1 c.21_22insG - r.? p.Arg8fs
+/. 1 c.22C>T - r.(?) p.(Arg8*)
+/. 1 c.22C>T - r.22c>u p.Arg8*
+/. 1 c.22C>T - r.? p.(Arg8*)
+/. 1 c.22_37del - r.(?) p.(Arg8Trpfs*5)
-?/. - c.23G>T likely benign r.(?) p.(Arg8Leu)
+/. 1 c.35G>A - r.35g>a p.Trp12*
+/. 1 c.71dupT - r.? p.(Gly25Argfs*22)
+/. 1 c.71_90del - r.? p.Ala23fs
+/. 1i c.103+2T>A - r.spl? p.?
+/. 1i c.104-2A>G - r.[103_104ins104-216_104-1;104-2a>g, 104_212del] p.fs*
+/. 1i c.104-2A>G - r.spl? p.?
+/. 1i c.104-2A>G - r.[104_212del, 103_104ins104-216_104-1;104-2a>g] p.fs*
+/. 1i c.104-1G>A - r.(104_240del) p.(Asp35Alafs*18)
+/. 1i c.104-?_507+?del - r.104_507del p.?
-?/. - c.104A>G likely benign r.(?) p.(Asp35Gly)
+/. 2 c.121_123del - r.? p.Leu41del
+/. 2 c.133G>A - r.? p.(Asp45Asn)
+/. 2 c.133G>C - r.(?) p.(Asp45His)
+/. 2 c.143G>C - r.143g>c p.Arg48Pro
+/. 2 c.181T>C - r.(?) p.(Ser61Pro)
+/. 2 c.187A>G - r.(?) p.(Asn63Asp)
+/. 2 c.187A>G - r.? p.Asn63Asp
+/. 2 c.212G>A - r.(?) p.(Ser71Asn)
+/. 2 c.223C>T - r.(?) p.(Gln75*)
?/. - c.236C>G VUS r.(?) p.(Ala79Gly)
+/. 2 c.238C>T - r.238c>u p.Gln80*
+/. 2 c.238C>T - r.? p.(Gln80*)
+/. 2i c.240+1G>A - r.? p.?
+/. 2i c.240+1G>T - r.104_240del p.Asp35Alsfs*18
+/. 3i_7i c.240+76_1007-1089delins[KT724868:g.261_2375] - r.(?) p.(Gln81Glyfs*4)
+/. 2i c.241-10T>G - r.[241_284del, =] p.[Gln81Glufs*3, =]
+/. 2i c.241-5A>T - r.241_418del p.Gln81Glyfs*73
+/. 2i c.241-2A>G - r.[241_284del, 241_418del] p.[Gln81Glufs*3, Gln81Glyfs*73]
+/. 2i c.241-1G>A - r.[241_284del, 241_418del] p.[Gln81Glufs*3, Gln81Glyfs*73]
+/. 3 c.252C>A - r.? p.(Cys84*)
+/. 3 c.252C>A - r.? p.(Cys84*)
+/. 3 c.253G>A - r.(?) p.(Ala85Thr)
+/. 3 c.253G>A - r.253g>a p.(Ala85Thr)
+/. 3 c.253G>A - r.253g>a p.Ala85Thr
+/. 3 c.253G>A - r.253g>a p.Ala85Thr
+/. 3 c.253G>A - r.(?) p.(Ala85Thr)
+/. 3 c.253G>T - r.? p.(Ala85Ser)
+/. 3 c.257C>A - r.? p.Pro86Gln
+/. - c.257C>T pathogenic r.(?) p.(Pro86Leu)
+/. 3 c.257C>T - r.[257c>u, 241_284del] p.[Pro86Leu, Gln81Glufs*3]
+/. 3 c.257C>T - r.257c>u p.Pro86Leu
+/. 3 c.257C>T - r.? p.(Pro86Leu)
+/. 3 c.257C>T - r.? p.(Pro86Leu)
+/. 3 c.257C>T - r.? p.(Pro86Leu)
+/. 3 c.257C>T - r.[257c>u, 241_284del] p.[Pro86Leu, Gln81Glufs*3]
+/. 3 c.260G>A - r.260g>a p.Ser87Asn
+/. 3 c.260G>A - r.(?) p.(Ser87Asn)
+/. 2 c.262C>T - r.(?) p.Arg88Cys
+/. 3 c.262C>T - r.(?) p.Arg88Cys
+/. 3 c.262C>T - r.(?) p.Arg88Cys
+/. 3 c.262C>T - r.(?) p.Arg88Cys
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