All variants in the HEXA gene

Information The variants shown are described using the NM_000520.4 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.745C>T r.(?) p.(Arg249Trp) - pathogenic g.72642919G>A g.72350578G>A HEXA(NM_000520.6):c.745C>T (p.R249W) - HEXA_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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