All variants in the HEXA gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.739C>T r.(?) p.(Arg247Trp) - likely benign g.72642925G>A g.72350584G>A HEXA(NM_000520.4):c.739C>T (p.(Arg247Trp)), HEXA(NM_000520.6):c.739C>T (p.R247W), HEXA(NM_001318825.1):c.772C>T (p.R258W) - HEXA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.739C>T r.(?) p.(Arg247Trp) - VUS g.72642925G>A g.72350584G>A HEXA(NM_000520.4):c.739C>T (p.(Arg247Trp)), HEXA(NM_000520.6):c.739C>T (p.R247W), HEXA(NM_001318825.1):c.772C>T (p.R258W) - HEXA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.739C>T r.(?) p.(Arg247Trp) - likely benign g.72642925G>A g.72350584G>A HEXA(NM_000520.4):c.739C>T (p.(Arg247Trp)), HEXA(NM_000520.6):c.739C>T (p.R247W), HEXA(NM_001318825.1):c.772C>T (p.R258W) - HEXA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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