Full data view for gene HGSNAT

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

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/. 5 c.525dup r.(?) p.(Val176CysfsTer16) Both (homozygous) - pathogenic g.43016612dup g.43161469dup - - HGSNAT_000043 - PubMed: Hrebicek 2006 - - Germline - - - 0 - DNA SEQ - - MPS3C - PubMed: Hrebicek 2006 - F - Portugal - - 0 - - 1 Stéphanie Durand
+/. 5 c.525dup r.(?) p.(Val176CysfsTer16) Unknown - pathogenic g.43016612dup g.43161469dup - - HGSNAT_000043 - PubMed: Hrebicek 2006 - - Germline - - - 0 - DNA SEQ - - MPS3C - PubMed: Hrebicek 2006 - M - Portugal - - 0 - - 1 Stéphanie Durand
+/. 5 c.525dup r.(?) p.(Val176CysfsTer16) Unknown - pathogenic g.43016612dup g.43161469dup - - HGSNAT_000043 - PubMed: Coutinho 2008 - - Germline - - - 0 - DNA SEQ - - MPS3C - PubMed: Coutinho 2008 - - - Portugal - - 0 - - 1 Stéphanie Durand
+/. 5 c.525dup r.(?) p.(Val176CysfsTer16) Both (homozygous) - pathogenic g.43016612dup g.43161469dup - - HGSNAT_000043 - PubMed: Coutinho 2008 - - Germline - - - 0 - DNA SEQ - - MPS3C - PubMed: Coutinho 2008 - - - Portugal - - 0 - - 1 Stéphanie Durand
+/. 5 c.525dup r.(?) p.(Val176CysfsTer16) Both (homozygous) - pathogenic g.43016612dup g.43161469dup - - HGSNAT_000043 - PubMed: Coutinho 2008 - - Germline - - - 0 - DNA SEQ - - MPS3C - PubMed: Coutinho 2008 - - - Portugal - - 0 - - 1 Stéphanie Durand
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