All variants in the SGSH gene

Information The variants shown are described using the NM_000199.3 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Clinical classification     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Owner     
./. - c.97G>A r.(?) p.(Gly33Arg) likely pathogenic g.78190983C>T - SGSH_000004 Variome.ir
./. - c.97G>T r.(?) p.(Gly33*) pathogenic g.78190983C>A - SGSH_000014 Variome.ir
./. - c.103T>G r.(?) p.(Phe35Val) likely pathogenic g.78190977A>C - SGSH_000010 Variome.ir
./. - c.172delC r.(?) p.(Leu58Serfs*206) likely pathogenic g.78190908delG - SGSH_000008 Variome.ir
./. - c.416C>T r.(?) p.(Thr139Met) likely pathogenic g.78188504G>A - SGSH_000005 Variome.ir
./. - c.449G>A r.(?) p.(Arg150Gln) pathogenic g.78188471C>T - SGSH_000011 Variome.ir
./. - c.559C>T r.(?) p.(Gln187*) pathogenic g.78188075G>A - SGSH_000009 Variome.ir
./. - c.578T>C r.(?) p.(Phe193Ser) likely pathogenic g.78188056A>G - SGSH_000007 Variome.ir
+/+ - c.763del r.(?) p.(Gln255Argfs*9) pathogenic g.78186056del - SGSH_000003 Variome.ir
./. - c.812C>T r.(?) p.(Thr271Met) likely pathogenic g.78186007G>A - SGSH_000006 Variome.ir
./. - c.822C>G r.(?) p.(Asn274Lys) likely pathogenic g.78185997G>C - SGSH_000013 Variome.ir
./. - c.1176C>A r.(?) p.(Phe392Leu) VUS g.78184584G>T - SGSH_000012 Variome.ir
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