Transcript #00000140 (NM_152419.2, HGSNAT gene)

Transcript name heparan-alpha-glucosaminide N-acetyltransferase
Gene name HGSNAT (heparan-alpha-glucosaminide N-acetyltransferase)
Chromosome 8
Transcript - NCBI ID NM_152419.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_689632.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

5 entries on 1 page. Showing entries 1 - 5.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Clinical classification     
+/+ - c.744-2A>G r.spl? p.? pathogenic
./. - c.821-85_1012+57del r.(?) p.(Gly274_Leu338delinsVal) pathogenic
./. - c.848C>T r.(?) p.(Pro283Leu) pathogenic
./. - c.1012+4A>G r.spl? p.? VUS
./. - c.1772dup r.(?) p.(Asn591Lysfs*38) likely pathogenic
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