All variants in the HGSNAT gene

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

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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     
+/+ 2 c.227G>T r.(?) p.(Cys76Phe) - pathogenic g.43002199G>T g.43147056G>T c.311G>T - HGSNAT_000017 - PubMed: Hrebicek 2006 - - Germline - - - 0 - St├ęphanie Durand
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