Transcript #00000135 (XM_005256301.1, GALNS gene)

Transcript name galactosamine (N-acetyl)-6-sulfate sulfatase, transcript variant X1
Gene name GALNS (galactosamine (N-acetyl)-6-sulfatase)
Chromosome 16
Transcript - NCBI ID XM_005256301.1
Transcript - Ensembl ID -
Protein - NCBI ID XP_005256358.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

7 entries on 1 page. Showing entries 1 - 7.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Clinical classification     
+/+ - c.139G>A r.(?) p.(Gly47Arg) pathogenic
./+ - c.319G>A r.(?) p.(Ala107Thr) pathogenic
+/+ - c.442C>T r.(?) p.(Gln148*) pathogenic
./. - c.542A>G r.(?) p.(Tyr181Cys) likely pathogenic
./. - c.869G>C r.(?) p.(Gly290Ala) likely pathogenic
./. - c.947G>A r.(?) p.(Gly316Glu) likely pathogenic
./. - c.1279del r.(?) p.(Val427Serfs*14) likely pathogenic
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