All variants in the HGSNAT gene

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     

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     
+/. 4i c.493+1G>A r.spl p.? - pathogenic g.43014188G>A g.43159045G>A c.577+1G>A - HGSNAT_000001 - PubMed: Fan 2006 - - Germline - - -BsiWI 0 - Stéphanie Durand
+/. 4i c.493+1G>A r.spl p.? - pathogenic g.43014188G>A g.43159045G>A c.577+1G>A - HGSNAT_000001 - PubMed: Fan 2006 - - Germline - - -BsiWI 0 - Stéphanie Durand
+/. 4i c.493+1G>A r.spl p.? - pathogenic g.43014188G>A g.43159045G>A c.577+1G>A - HGSNAT_000001 - PubMed: Hrebicek 2006 - - Germline - - -BsiWI 0 - Stéphanie Durand
+/. 4i c.493+1G>A r.spl p.? - pathogenic g.43014188G>A g.43159045G>A c.577+1G>A - HGSNAT_000001 - PubMed: Hrebicek 2006 - - Germline - - -BsiWI 0 - Stéphanie Durand
+/. 4i c.493+1G>A r.spl p.? - pathogenic g.43014188G>A g.43159045G>A c.577+1G>A - HGSNAT_000001 - PubMed: Feldhammer 2009 - - Germline - - -BsiWI 0 - Stéphanie Durand
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