All variants in the HGSNAT gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
+/+ 4 c.410T>C r.(?) p.(Leu137Pro) - pathogenic g.43014104T>C g.43158961T>C - - HGSNAT_000036 - PubMed: Fedele 2007; PubMed: Ruijter 2008 - - Germline - - - 0 - Stéphanie Durand
+/+ 4 c.410T>C r.(?) p.(Leu137Pro) - pathogenic g.43014104T>C g.43158961T>C - - HGSNAT_000036 - PubMed: Feldhammer 2009 - - Germline - - - 0 - Stéphanie Durand
+?/. - c.410T>C r.(?) p.(Leu137Pro) - likely pathogenic g.43014104T>C g.43158961T>C HGSNAT(NM_152419.2):c.410T>C (p.L137P) - HGSNAT_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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