All variants in the HEXA gene

Information The variants shown are described using the NM_000520.4 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

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.533G>A r.(?) p.(Arg178His) - VUS g.72645446C>T g.72353105C>T - - HEXA_000003 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/. - c.533G>A r.(?) p.(Arg178His) - pathogenic g.72645446C>T g.72353105C>T HEXA(NM_000520.6):c.533G>A (p.R178H), HEXA(NM_001318825.1):c.566G>A (p.R189H) - HEXA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+?/. - c.533G>A r.(?) p.(Arg178His) - likely pathogenic g.72645446C>T - HEXA(NM_000520.6):c.533G>A (p.R178H), HEXA(NM_001318825.1):c.566G>A (p.R189H) - HEXA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.533G>A r.(?) p.(Arg178His) - VUS g.72645446C>T - HEXA(NM_000520.6):c.533G>A (p.R178H), HEXA(NM_001318825.1):c.566G>A (p.R189H) - HEXA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend   How to query