All variants in the HGSNAT gene

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

13 entries on 1 page. Showing entries 1 - 13.
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     
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Hrebicek 2006; PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Hrebicek 2006; PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Fedele 2007 - - Germline - - - 0 - Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Feldhammer 2009 - - Germline - - - 0 - Stéphanie Durand
+/. - c.234+1G>A r.spl? p.? - pathogenic g.43002207G>A g.43147064G>A HGSNAT(NM_152419.2):c.234+1G>A - HGSNAT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) - pathogenic (recessive) g.43002207G>A g.43147064G>A - - HGSNAT_000007 - PubMed: Martins 2019, Journal: Martins 2019 - rs483352908 Germline - - - 0 - Carla Martins
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) - pathogenic (recessive) g.43002207G>A g.43147064G>A - - HGSNAT_000007 - PubMed: Martins 2019, Journal: Martins 2019 30832 rs483352908 Germline - - - 0 - Carla Martins
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) - pathogenic (recessive) g.43002207G>A g.43147064G>A - - HGSNAT_000007 - PubMed: Martins 2019, Journal: Martins 2019 30832 rs483352908 Germline - - - 0 - Carla Martins
+/. - c.234+1G>A r.spl? p.? - pathogenic g.43002207G>A g.43147064G>A HGSNAT(NM_152419.2):c.234+1G>A - HGSNAT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.234+1G>A r.spl p.? - likely pathogenic (recessive) g.43002207G>A g.43147064G>A - - HGSNAT_000007 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline - - - 0 - Johan den Dunnen
Legend   How to query