All variants in the HGSNAT gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/. 7 c.739del r.(?) p.(Arg247GlyfsTer29) - pathogenic g.43025833del g.43170690del - - HGSNAT_000031 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
+/. 7 c.739del r.(?) p.(Arg247GlyfsTer29) - pathogenic g.43025833del g.43170690del - - HGSNAT_000031 - PubMed: Fedele 2007 - - Germline - - - 0 - Stéphanie Durand
+/. 7 c.739del r.(?) p.(Arg247GlyfsTer29) - pathogenic g.43025833del g.43170690del - - HGSNAT_000031 c.739delA from Italian mother, c.1516C>T from Belgian father PubMed: Feldhammer 2009 - - Germline - - - 0 - Stéphanie Durand
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