Unique variants in the HGSNAT gene

Information The variants shown are described using the NM_152419.2 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Clinical classification     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Owner     
+/+ 1 - c.744-2A>G r.spl? p.? pathogenic g.43027451A>G Varsome link: https://varsome.com/variant/hg19/NM_152419%3Ac.744-2A%3EG HGSNAT_000001 Variome.ir
./. 1 - c.821-85_1012+57del r.(?) p.(Gly274_Leu338delinsVal) pathogenic g.43028771_43033434del - HGSNAT_000003 Variome.ir
./. 1 - c.848C>T r.(?) p.(Pro283Leu) pathogenic g.43028883C>T https://varsome.com/variant/hg19/chr8-43028883-C-T HGSNAT_000002 Variome.ir
./. 1 - c.1012+4A>G r.spl? p.? VUS g.43033381A>G - HGSNAT_000004 Variome.ir
./. 1 - c.1772dup r.(?) p.(Asn591Lysfs*38) likely pathogenic g.43054576dup - HGSNAT_000005 Variome.ir
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