All variants in the HGSNAT gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/. - c.370A>T r.[235_371del,370a>u] p.[Cys79Valfs*20,Arg124Trp) - pathogenic (recessive) g.43013853A>T g.43158710A>T - - HGSNAT_000124 - PubMed: Haer-Wigman 2015 - - Germline - - - 0 - Johan den Dunnen
+/. - c.370A>T r.[235_371del,370a>u] p.[Cys79Valfs*20,Arg124Trp) - pathogenic (recessive) g.43013853A>T g.43158710A>T - - HGSNAT_000124 - PubMed: Haer-Wigman 2015 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.370A>T r.(?) p.(Arg124Trp) ACMG pathogenic g.43013853A>T - - - HGSNAT_000124 - PubMed: Sharon 2019 - - Germline - 5/2420 IRD families - 0 - Global Variome, with Curator vacancy
+/. - c.370A>T r.spl p.(Cys79Valfs*20) - pathogenic (recessive) g.43013853A>T - - - HGSNAT_000124 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - - - 0 - Johan den Dunnen
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