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.1305C>T r.(?) p.(Tyr435Tyr) ACMG pathogenic g.72638893G>A g.72346552G>A - - HEXA_000038 ACMG: PS3,PM2,PM3,PP4,PP5; phase unknown, sister also affected; Levit et al. 2010. Mol Genet Metab. 100: 176 - - rs587779406 Germline - - - 0 - Andreas Laner
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