Unique variants in the IDS gene

Information The variants shown are described using the NM_000202.5 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Clinical classification     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Owner     
./. 1 - c.-99_*155del r.? p.? pathogenic g.148564122_148586766del - IDS_000017 Variome.ir
./. 1 - c.76_80dup r.(?) p.(Glu27Aspfs*13) likely pathogenic g.148586588_148586592dup - IDS_000011 Variome.ir
+/+ 1 - c.85C>T r.(?) p.(Gln29*) pathogenic g.148586583G>A - IDS_000008 Variome.ir
./. 1 - c.121_123del3 r.(?) p.(Leu41del) VUS g.148585804_148585806del3 - IDS_000014 Variome.ir
./. 1 - c.268T>C r.(?) p.(Ser90Pro) likely pathogenic g.148584992A>G - IDS_000010 Variome.ir
./+ 1 - c.283A>G r.(?) p.(Arg95Gly) pathogenic g.148584977T>C - IDS_000004 Variome.ir
./+ 1 - c.323_325delACT r.(?) p.(Tyr108del) likely pathogenic g.148584935_148584937delAGT - IDS_000001 Variome.ir
./. 1 - c.401G>T r.(?) p.(Gly134Val) likely pathogenic g.148584859C>A - IDS_000006 Variome.ir
./. 1 - c.419-2A>G r.spl? p.? pathogenic g.148582570T>C - IDS_000003 Variome.ir
./. 1 - c.686A>T r.(?) p.(His229Leu) pathogenic g.148579660T>A - IDS_000018 Variome.ir
./. 1 - c.841_873del33 r.(?) p.(Ile281_Asp291del) likely pathogenic g.148577883_148577915del33 - IDS_000016 Variome.ir
./. 1 - c.922G>A r.(?) p.(Asp308Asn) likely pathogenic g.148571929C>T - IDS_000012 Variome.ir
./. 1 - c.998C>T r.(?) p.(Ser333Leu) pathogenic g.148571853G>A - IDS_000005 Variome.ir
./. 1 - c.1181-2A>G r.spl? p.? pathogenic g.148564751T>C - IDS_000015 Variome.ir
+/+ 1 - c.1424G>A r.(?) p.(Trp475*) pathogenic g.148564506C>T - IDS_000009 Variome.ir
./. 1 - c.1439C>G r.(?) p.(Pro480Arg) likely pathogenic g.148564491G>C - IDS_000007 Variome.ir
./+ 1 - c.1565T>C r.(?) p.(Leu522Pro) likely pathogenic g.148564365A>G - IDS_000002 Variome.ir
./. 1 - c.1611delT r.(?) p.(Asn537Lysfs*12) likely pathogenic g.148564319delA - IDS_000013 Variome.ir
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