Full data view for gene HGSNAT

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

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) Unknown - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Hrebicek 2006 - - Germline - - - 0 - DNA SEQ - - MPS3C - PubMed: Hrebicek 2006 - F - France - - 0 - - 1 Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) Both (homozygous) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Hrebicek 2006 - - Germline - - - 0 - DNA SEQ - - MPS3C - PubMed: Hrebicek 2006 - M - Spain - - 0 - - 1 Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) Both (homozygous) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Hrebicek 2006; PubMed: Ruijter 2008 - - Germline - - - 0 - DNA SEQ - - MPS3C - PubMed: Hrebicek 2006, PubMed: Ruijter 2008 - M - Morocco - - 0 - - 2 Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) Both (homozygous) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Hrebicek 2006; PubMed: Ruijter 2008 - - Germline - - - 0 - DNA SEQ - - MPS3C - PubMed: Hrebicek 2006, PubMed: Ruijter 2008 - F - Morocco - - 0 - - 2 Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) Both (homozygous) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Fedele 2007 - - Germline - - - 0 - DNA SEQ - - MPS3C - PubMed: Fedele 2007 - M - Italy - - 0 - - 1 Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) Both (homozygous) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Ruijter 2008 - - Germline - - - 0 - DNA SEQ - - MPS3C - PubMed: Ruijter 2008 - F - Turkey - - 0 - - 1 Stéphanie Durand
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) Both (homozygous) - pathogenic g.43002207G>A g.43147064G>A c.318+1G>A - HGSNAT_000007 - PubMed: Feldhammer 2009 - - Germline - - - 0 - DNA SEQ - - MPS3C - PubMed: Feldhammer 2009 - F - Morocco - - 0 - - 1 Stéphanie Durand
+/. - c.234+1G>A r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) Both (homozygous) - pathogenic (recessive) g.43002207G>A g.43147064G>A - - HGSNAT_000007 - PubMed: Martins 2019, Journal: Martins 2019 - rs483352908 Germline - - - 0 - DNA SEQ - - MPS3C Br12 PubMed: Martins 2019, Journal: Martins 2019 origin: State of Sao Paulo M yes Brazil - - 0 - - 1 Carla Martins
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) Maternal (confirmed) - pathogenic (recessive) g.43002207G>A g.43147064G>A - - HGSNAT_000007 - PubMed: Martins 2019, Journal: Martins 2019 30832 rs483352908 Germline - - - 0 - DNA SEQ - - MPS3C Pt1 PubMed: Martins 2019, Journal: Martins 2019 - F no Portugal Portuguese - 0 - - 1 Carla Martins
+/. 2i c.234+1G>A r.spl p.(Asp40Valfs*19) Both (homozygous) - pathogenic (recessive) g.43002207G>A g.43147064G>A - - HGSNAT_000007 - PubMed: Martins 2019, Journal: Martins 2019 30832 rs483352908 Germline - - - 0 - DNA SEQ - - MPS3C Alg1 PubMed: Martins 2019, Journal: Martins 2019 - M ? Algeria - - 0 - - 1 Carla Martins
+/. - c.234+1G>A r.spl? p.? Unknown - pathogenic g.43002207G>A g.43147064G>A HGSNAT(NM_152419.2):c.234+1G>A - HGSNAT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.234+1G>A r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.43002207G>A g.43147064G>A - - HGSNAT_000007 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 565 gene panel ID UK10K_FINDWGA5411534 PubMed: Grozeva 2015, Journal: Grozeva 2015 - F - - - - 0 - - 1 Johan den Dunnen
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