Transcript #00000133 (NM_000263.3, NAGLU gene)

Transcript name N-acetylglucosaminidase, alpha
Gene name NAGLU (N-acetyl-alpha-glucosaminidase)
Chromosome 17
Transcript - NCBI ID NM_000263.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000254.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

18 entries on 1 page. Showing entries 1 - 18.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Clinical classification     
./. - c.259G>C r.(?) p.(Ala87Pro) VUS
./. - c.259G>C r.(?) p.(Ala87Pro) VUS
./. - c.259G>C r.(?) p.(Ala87Pro) VUS
./. - c.457G>A r.(?) p.(Glu153Lys) likely pathogenic
./. - c.480delT r.(?) p.(Asn160Lysfs*25) pathogenic
./. - c.534_535delGT r.(?) p.(Tyr179Profs*12) pathogenic
./. - c.607C>T r.(?) p.(Arg203*) pathogenic
./. - c.608G>A r.(?) p.(Arg203Gln) VUS
./+? - c.735C>A r.(?) p.(Phe245Leu) VUS
./. - c.934G>A r.(?) p.(Asp312Asn) pathogenic
./. - c.1384G>C r.(?) p.(Gly462Arg) VUS
./. - c.1422G>A r.(?) p.(Trp474*) pathogenic
./. - c.1444C>T r.(?) p.(Arg482Trp) pathogenic
./. - c.1444C>T r.(?) p.(Arg482Trp) pathogenic
./. - c.1694G>A r.(?) p.(Arg565Gln) pathogenic
./. - c.1870C>T r.(?) p.(Gln624*) pathogenic
./. - c.1946G>A r.(?) p.(Trp649*) pathogenic
./. - c.1984C>T r.(?) p.(Gln662*) pathogenic
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