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     
+/. 8 c.964G>T r.(?) p.(Asp322Tyr) - pathogenic g.72641442C>A g.72349101C>A - - HEXA_000048 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
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