Full data view for gene HGSNAT

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 1 c.1-1925_118+296del r.0? p.0? Both (homozygous) - pathogenic g.42993715_42996053del g.43138572_43140910del c.202+1G>A - HGSNAT_000046 - PubMed: Feldhammer 2009 - - Germline - - - 0 - DNA SEQ - - MPS3C - PubMed: Feldhammer 2009 - F - Turkey - - 0 - - 1 Stéphanie Durand
+/. 1 c.1-1925_118+296del r.0? p.0? Both (homozygous) - pathogenic g.42993715_42996053del g.43138572_43140910del c.202+1G>A - HGSNAT_000046 - PubMed: Feldhammer 2009 - - Germline - - - 0 - DNA SEQ - - MPS3C - PubMed: Feldhammer 2009 - M - Turkey - - 0 - - 1 Stéphanie Durand
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