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     
+?/. - c.259G>T r.(?) p.(Val87Phe) - likely pathogenic g.43013742G>T g.43158599G>T HGSNAT(NM_001363227.1):c.259G>T (p.V87F) - HGSNAT_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.259G>T r.(?) p.(Val87Phe) - VUS g.43013742G>T g.43158599G>T HGSNAT(NM_001363227.1):c.259G>T (p.V87F) - HGSNAT_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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