All variants in the HGSNAT gene

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     

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     
+/. 7i c.743+1dup r.spl p.(Ile249AspfsTer31) - pathogenic g.43025838dup g.43170695dup - - HGSNAT_000033 - PubMed: Ruijter 2008 - - Germline - - - 0 - St├ęphanie Durand
+/. - c.743+1dup r.spl? p.? - pathogenic g.43025838dup g.43170695dup HGSNAT(NM_152419.2):c.743_743+1insG - HGSNAT_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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