All variants in the HGSNAT gene

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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 15 c.1466C>A r.(?) p.(Ala489Glu) - pathogenic g.43052092C>A g.43196949C>A - - HGSNAT_000049 - PubMed: Feldhammer 2009 - - Germline - - - 0 - Stéphanie Durand
+/. 15 c.1466C>A r.(?) p.(Ala489Glu) - pathogenic (recessive) g.43052092C>A g.43196949C>A - - HGSNAT_000049 - PubMed: Martins 2019, Journal: Martins 2019 - - Germline - - - 0 - Carla Martins
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