All 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     

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     
+/. 9i c.852-1G>A r.spl p.? - pathogenic g.43033216G>A g.43178073G>A - - HGSNAT_000028 - PubMed: Fedele 2007 - - Germline - - - 0 - Stéphanie Durand
+/. 9i c.852-1G>A r.spl p.? - pathogenic g.43033216G>A g.43178073G>A - - HGSNAT_000028 - PubMed: Fedele 2007 - - Germline - - - 0 - Stéphanie Durand
+/. 9i c.852-1G>A r.spl p.? - pathogenic g.43033216G>A g.43178073G>A - - HGSNAT_000028 - PubMed: Fedele 2007 - - Germline - - - 0 - Stéphanie Durand
+/. 9i c.852-1G>A r.spl p.? - pathogenic g.43033216G>A g.43178073G>A - - HGSNAT_000028 - PubMed: Feldhammer 2009 - - Germline - - - 0 - Stéphanie Durand
+?/. 9i c.852-1G>A r.spl p.(Trp284*) - pathogenic (recessive) g.43033216G>A g.43178073G>A - - HGSNAT_000028 - PubMed: Martins 2019, Journal: Martins 2019 556501 rs1447092074 Germline - - - 0 - Carla Martins
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