Transcript #00000137 (XM_005256303.1, GALNS gene)

Transcript name galactosamine (N-acetyl)-6-sulfate sulfatase, transcript variant X3
Gene name GALNS (galactosamine (N-acetyl)-6-sulfatase)
Chromosome 16
Transcript - NCBI ID XM_005256303.1
Transcript - Ensembl ID -
Protein - NCBI ID XP_005256360.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

6 entries on 1 page. Showing entries 1 - 6.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Clinical classification     
./+ - c.-237G>A r.(=) p.(=) pathogenic
+/+ - c.-114C>T r.(=) p.(=) pathogenic
./. - c.-14A>G r.(=) p.(=) likely pathogenic
./. - c.167C>A r.(?) p.(Ala56Asp) likely pathogenic
./. - c.392G>A r.(?) p.(Gly131Glu) likely pathogenic
./. - c.724del r.(?) p.(Val242Serfs*14) likely pathogenic
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