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.
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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.805G>A r.(?) p.(Gly269Ser) - VUS g.72642859C>T g.72350518C>T - - HEXA_000004 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/. - c.805G>A r.(?) p.(Gly269Ser) - pathogenic g.72642859C>T g.72350518C>T HEXA(NM_000520.6):c.805G>A (p.G269S) - HEXA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.805G>A r.(?) p.(Gly269Ser) ACMG pathogenic g.72642859C>T g.72350518C>T - - HEXA_000004 Navon et al. 1989. Science 243: 1471 - - rs121907954 Germline - - - 0 - Andreas Laner
+/. - c.805G>A r.(?) p.(Gly269Ser) ACMG pathogenic (recessive) g.72642859C>T - - - HEXA_000004 ACMG: PS3, PS4, PM3, PM2_SUP, PP3 PMID: 2522679, 2220809, 2522679, 20363167 Variation ID: 3898 - Germline ? - - - - Andreas Laner
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