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     
+/. 6i_8i c.634-408_820+338delinsAGAATATG r.(634_820del) p.(Glu212Glyfs*2) - pathogenic (recessive) g.43025320_43027867delinsAGAATATG g.43170177_43172724delinsAGAATATG - - HGSNAT_000123 - PubMed: Van Cauwenbergh 2016 - - Germline - - - 0 - Johan den Dunnen
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