All variants in the HGSNAT gene

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

6 entries on 1 page. Showing entries 1 - 6.
Legend   How to query  

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     
+/. 12 c.1209G>A r.(?) p.(Trp403*) - pathogenic (recessive) g.43046697G>A g.43191554G>A - - HGSNAT_000055 - PubMed: Ouesleti 2011 - - Germline yes - - 0 - Soumeya Bekri
+/. - c.1209G>A r.(?) p.(Trp403*) - pathogenic (recessive) g.43046697G>A g.43191554G>A - - HGSNAT_000055 - PubMed: Ouesleti 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 12 c.1209G>A r.(?) p.(Trp403*) - pathogenic g.43046697G>A - c.1209G>A - HGSNAT_000055 - PubMed: Ousleti-2011 - - Germline - - - 0 - LOVD
+/. 12 c.1209G>A r.(?) p.(Trp403*) - pathogenic g.43046697G>A - c.1209G>A - HGSNAT_000055 - PubMed: Ousleti-2011 - - Germline - - - 0 - LOVD
+/. 12 c.1209G>A r.(?) p.(Trp403*) - pathogenic g.43046697G>A - c.1209G>A - HGSNAT_000055 - PubMed: Ousleti-2011 - - Germline - - - 0 - LOVD
+/. 12 c.1209G>A r.(?) p.(Trp403*) - pathogenic g.43046697G>A - c.1209G>A - HGSNAT_000055 - PubMed: Ousleti-2011 - - Germline - - - 0 - LOVD
Legend   How to query