All variants in the HGSNAT gene

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

17 entries on 1 page. Showing entries 1 - 17.
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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     
+/+ 11 c.1030C>T r.(?) p.(Arg344Cys) - pathogenic g.43037305C>T g.43182162C>T c.1114C>T - HGSNAT_000018 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
+/+ 11 c.1030C>T r.(?) p.(Arg344Cys) - pathogenic g.43037305C>T g.43182162C>T c.1114C>T - HGSNAT_000018 - PubMed: Hrebicek 2006 - - Germline - - - 0 - Stéphanie Durand
+/+ 11 c.1030C>T r.(?) p.(Arg344Cys) - pathogenic g.43037305C>T g.43182162C>T c.1114C>T - HGSNAT_000018 - PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
+/+ 11 c.1030C>T r.(?) p.(Arg344Cys) - pathogenic g.43037305C>T g.43182162C>T c.1114C>T - HGSNAT_000018 - PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
+/+ 11 c.1030C>T r.(?) p.(Arg344Cys) - pathogenic g.43037305C>T g.43182162C>T c.1114C>T - HGSNAT_000018 - PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
+/+ 11 c.1030C>T r.(?) p.(Arg344Cys) - pathogenic g.43037305C>T g.43182162C>T c.1114C>T - HGSNAT_000018 - PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
+/+ 11 c.1030C>T r.(?) p.(Arg344Cys) - pathogenic g.43037305C>T g.43182162C>T c.1114C>T - HGSNAT_000018 - PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
+/+ 11 c.1030C>T r.(?) p.(Arg344Cys) - pathogenic g.43037305C>T g.43182162C>T c.1114C>T - HGSNAT_000018 - PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
+/+ 11 c.1030C>T r.(?) p.(Arg344Cys) - pathogenic g.43037305C>T g.43182162C>T c.1114C>T - HGSNAT_000018 - PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
+/+ 11 c.1030C>T r.(?) p.(Arg344Cys) - pathogenic g.43037305C>T g.43182162C>T c.1114C>T - HGSNAT_000018 - PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
+/+ 11 c.1030C>T r.(?) p.(Arg344Cys) - pathogenic g.43037305C>T g.43182162C>T c.1114C>T - HGSNAT_000018 - PubMed: Feldhammer 2009 - - Germline - - - 0 - Stéphanie Durand
+/+ 11 c.1030C>T r.(?) p.(Arg344Cys) - pathogenic g.43037305C>T g.43182162C>T c.1114C>T - HGSNAT_000018 - PubMed: Feldhammer 2009 - - Germline - - - 0 - Stéphanie Durand
+/. - c.1030C>T r.(?) p.(Arg344Cys) - pathogenic g.43037305C>T g.43182162C>T HGSNAT(NM_152419.2):c.1030C>T (p.R344C) - HGSNAT_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 11 c.1030C>T r.(?) p.(Arg344Cys) - pathogenic (recessive) g.43037305C>T g.43182162C>T - - HGSNAT_000018 - PubMed: Martins 2019, Journal: Martins 2019 1237 rs121908285 Germline - - - 0 - Carla Martins
+/. - c.1030C>T r.(?) p.(Arg344Cys) - pathogenic g.43037305C>T g.43182162C>T HGSNAT(NM_152419.2):c.1030C>T (p.R344C) - HGSNAT_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.1030C>T r.(?) p.(Arg344Cys) - pathogenic g.43037305C>T - HGSNAT(NM_152419.2):c.1030C>T (p.R344C) - HGSNAT_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 11 c.1030C>T r.1030c>u p.(Arg344Cys) - pathogenic (recessive) g.43037305C>T g.43182162C>T - - HGSNAT_000018 - Fadaie 2021, submitted - - Germline no - - 0 - Zeinab Fadaie
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