Transcript #00000132 (NM_000512.4, GALNS gene)

Transcript name galactosamine (N-acetyl)-6-sulfate sulfatase
Gene name GALNS (galactosamine (N-acetyl)-6-sulfatase)
Chromosome 16
Transcript - NCBI ID NM_000512.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000503.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

95 entries on 1 page. Showing entries 1 - 95.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Clinical classification     
./. - c.-70_319del r.? p.? pathogenic
./. - c.29G>A r.(?) p.(Trp10*) pathogenic
+/+ - c.29G>A r.(?) p.(Trp10*) pathogenic
+/+ - c.29G>A r.(?) p.(Trp10*) pathogenic
./. - c.83dupC r.(?) p.(Gln29Alafs*17) likely pathogenic
./. - c.84del r.(?) p.(Gln29Serfs*100) pathogenic
./. - c.85C>T r.(?) p.(Gln29*) pathogenic
./. - c.95A>C r.(?) p.(Asn32Thr) likely pathogenic
./. - c.107T>G r.(?) p.(Leu36Arg) likely pathogenic
./. - c.120+1G>C r.spl? p.? pathogenic
./. - c.120+1G>C r.spl? p.? pathogenic
./. - c.121A>T r.(?) p.(Met41Leu) pathogenic
+/+ - c.121_422del r.(?) p.(Met41Alafs*16) pathogenic
./. - c.139G>A r.(?) p.(Gly47Arg) pathogenic
+/+ - c.139G>A r.(?) p.(Gly47Arg) pathogenic
./+ - c.148G>A r.(?) p.(Gly50Arg) likely pathogenic
./. - c.230C>G r.(?) p.(Pro77Arg) likely pathogenic
./. - c.230C>G r.(?) p.(Pro77Arg) pathogenic
./. - c.230delC r.(?) p.(Pro77Leufs*52) pathogenic
./. - c.244T>C r.(?) p.(Ser82Pro) pathogenic
./. - c.263C>T r.(?) p.(Thr88Ile) likely pathogenic
./. - c.266G>A r.(?) p.(Gly89Glu) likely pathogenic
./. - c.284delA r.(?) p.(Asn95Metfs*34) pathogenic
./+ - c.313A>G r.(?) p.(Arg105Gly) likely pathogenic
./. - c.319G>A r.(?) p.(Ala107Thr) pathogenic
./+ - c.319G>A r.(?) p.(Ala107Thr) pathogenic
+/+ - c.319G>A r.(?) p.(Ala107Thr) pathogenic
./. - c.319G>A r.(?) p.(Ala107Thr) pathogenic
./. - c.326C>T r.(?) p.(Thr109Ile) likely pathogenic
./. - c.346G>A r.(?) p.(Gly116Ser) pathogenic
./. - c.346G>A r.(?) p.(Gly116Ser) pathogenic
./. - c.346G>A r.(?) p.(Gly116Ser) pathogenic
./. - c.374C>T r.(?) p.(Pro125Leu) pathogenic
./. - c.374C>T r.(?) p.(Pro125Leu) pathogenic
./. - c.416G>A r.(?) p.(Gly139Asp) likely pathogenic
./. - c.421T>A r.(?) p.(Trp141Arg) pathogenic
+/+ - c.421T>A r.(?) p.(Trp141Arg) pathogenic
./+ - c.423-7_898+45del r.(?) p.(His142Trpfs*15) pathogenic
+/+ - c.424_565del r.(?) p.(His142Aspfs*10) pathogenic
./. - c.424_565del r.(?) p.(His142Aspfs*10) pathogenic
+/+ - c.442C>T r.(?) p.(Gln148*) pathogenic
./. - c.535C>T r.(?) p.(Pro179Ser) pathogenic
./. - c.542A>G r.(?) p.(Tyr181Cys) likely pathogenic
./+ - c.542A>G r.(?) p.(Tyr181Cys) likely pathogenic
./+ - c.542A>G r.(?) p.(Tyr181Cys) pathogenic
./. - c.602G>A r.(?) p.(Gly201Glu) likely pathogenic
./. - c.602G>A r.(?) p.(Gly201Glu) likely pathogenic
./. - c.609delC r.(?) p.(Asn204Thrfs*115) pathogenic
+/+ - c.647T>C r.(?) p.(Phe216Ser) pathogenic
./. - c.680del r.(?) p.(Phe227Serfs*92) pathogenic
./. - c.680T>C r.(?) p.(Phe227Ser) likely pathogenic
./. - c.688T>C r.(?) p.(Trp230Arg) likely pathogenic
./. - c.722C>A r.(?) p.(Ala241Asp) likely pathogenic
./. - c.860C>T r.(?) p.(Ser287Leu) pathogenic
./+ - c.860C>T r.(?) p.(Ser287Leu) pathogenic
./. - c.860C>T r.(?) p.(Ser287Leu) pathogenic
+/+ - c.860C>T r.(?) p.(Ser287Leu) pathogenic
./. - c.860C>T r.(?) p.(Ser287Leu) pathogenic
./. - c.860C>T r.(?) p.(Ser287Leu) pathogenic
+/+ - c.866A>G r.(?) p.(Asn289Ser) likely pathogenic
./+ - c.868G>A r.(?) p.(Gly290Ser) pathogenic
./. - c.869G>C r.(?) p.(Gly290Ala) likely pathogenic
./+ - c.916T>G r.(?) p.(Phe306Val) likely pathogenic
./+ - c.934A>G r.(?) p.(Thr312Ala) likely pathogenic
./. - c.941T>C r.(?) p.(Phe314Ser) likely pathogenic
./. - c.947G>A r.(?) p.(Gly316Glu) likely pathogenic
./. - c.949G>C r.(?) p.(Gly317Arg) likely pathogenic
./. - c.956G>C r.(?) p.(Arg319Thr) likely pathogenic
./. - c.956G>C r.(?) p.(Arg319Thr) likely pathogenic
./. - c.965C>T r.(?) p.(Ala322Val) likely pathogenic
./. - c.965C>T r.(?) p.(Ala322Val) likely pathogenic
./+ - c.965C>T r.(?) p.(Ala322Val) likely pathogenic
./. - c.974G>A r.(?) p.(Trp325*) pathogenic
./. - c.1002+1G>A r.spl? p.? pathogenic
./. - c.1019G>A r.(?) p.(Gly340Asp) likely pathogenic
+/+ - c.1019G>A r.(?) p.(Gly340Asp) pathogenic
./. - c.1042A>G r.(?) p.(Thr348Ala) likely pathogenic
./. - c.1042A>G r.(?) p.(Thr348Ala) likely pathogenic
./. - c.1042A>G r.(?) p.(Thr348Ala) likely pathogenic
./. - c.1042A>G r.(?) p.(Thr348Ala) likely pathogenic
./. - c.1073C>T r.(?) p.(Pro358Leu) likely pathogenic
./. - c.1156C>T r.(?) p.(Arg386Cys) likely pathogenic
./. - c.1157G>A r.(?) p.(Arg386His) likely pathogenic
./+ - c.1219A>C r.(?) p.(Asn407His) pathogenic
./. - c.1259C>G r.(?) p.(Pro420Arg) likely pathogenic
./. - c.1259C>G r.(?) p.(Pro420Arg) likely pathogenic
./. - c.1265A>G r.(?) p.(Gln422Arg) VUS
./+ - c.1279del r.(?) p.(Val427Serfs*14) likely pathogenic
./. - c.1365_1482del r.(?) p.(Ser455Argfs*11) pathogenic
./. - c.1480A>G r.(?) p.(Met494Val) likely pathogenic
./. - c.1482+1G>A r.spl? p.? pathogenic
./. - c.1493C>T r.(?) p.(Pro498Leu) likely pathogenic
./. - c.1496C>T r.(?) p.(Pro499Leu) likely pathogenic
./. - c.1519T>C r.(?) p.(Cys507Arg) likely pathogenic
./. - c.1568A>G r.(?) p.(*523Trpext*92) VUS
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