All variants in the NAGLU gene

Information The variants shown are described using the NM_000263.3 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Clinical classification     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Owner     
./. - c.259G>C r.(?) p.(Ala87Pro) VUS g.40688549G>C - NAGLU_000004 Variome.ir
./. - c.259G>C r.(?) p.(Ala87Pro) VUS g.40688549G>C - NAGLU_000004 Variome.ir
./. - c.259G>C r.(?) p.(Ala87Pro) VUS g.40688549G>C - NAGLU_000004 Variome.ir
./. - c.457G>A r.(?) p.(Glu153Lys) likely pathogenic g.40689489G>A - NAGLU_000007 Variome.ir
./. - c.480delT r.(?) p.(Asn160Lysfs*25) pathogenic g.40689512delT - NAGLU_000005 Variome.ir
./. - c.534_535delGT r.(?) p.(Tyr179Profs*12) pathogenic g.40690359_40690360delGT - NAGLU_000010 Variome.ir
./. - c.607C>T r.(?) p.(Arg203*) pathogenic g.40690432C>T - NAGLU_000014 Variome.ir
./. - c.608G>A r.(?) p.(Arg203Gln) VUS g.40690433G>A - NAGLU_000009 Variome.ir
./+? - c.735C>A r.(?) p.(Phe245Leu) VUS g.40690744C>A - NAGLU_000001 Variome.ir
./. - c.934G>A r.(?) p.(Asp312Asn) pathogenic g.40693137G>A - NAGLU_000012 Variome.ir
./. - c.1384G>C r.(?) p.(Gly462Arg) VUS g.40695408G>C - NAGLU_000015 Variome.ir
./. - c.1422G>A r.(?) p.(Trp474*) pathogenic g.40695446G>A - NAGLU_000006 Variome.ir
./. - c.1444C>T r.(?) p.(Arg482Trp) pathogenic g.40695468C>T - NAGLU_000011 Variome.ir
./. - c.1444C>T r.(?) p.(Arg482Trp) pathogenic g.40695468C>T - NAGLU_000011 Variome.ir
./. - c.1694G>A r.(?) p.(Arg565Gln) pathogenic g.40695718G>A - NAGLU_000003 Variome.ir
./. - c.1870C>T r.(?) p.(Gln624*) pathogenic g.40695894C>T - NAGLU_000008 Variome.ir
./. - c.1946G>A r.(?) p.(Trp649*) pathogenic g.40695970G>A - NAGLU_000013 Variome.ir
./. - c.1984C>T r.(?) p.(Gln662*) pathogenic g.40696008C>T - NAGLU_000002 Variome.ir
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