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.1274_1277dup r.(?) p.(Tyr427Ilefs*5) - VUS g.72638921_72638924dup g.72346580_72346583dup - - HEXA_000002 - - - - Germline - - - - - Gerard C.P. Schaafsma
+?/. - c.1274_1277dup r.(?) p.(Tyr427IlefsTer5) - likely pathogenic g.72638921_72638924dup g.72346580_72346583dup HEXA(NM_000520.4):c.1277_1278insTATC (p.(Tyr427IlefsTer5)), HEXA(NM_001318825.1):c.1307_1310dupTATC (p.Y438Ifs*5) - HEXA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1274_1277dup r.(?) p.(Tyr427IlefsTer5) - pathogenic g.72638921_72638924dup - HEXA(NM_000520.4):c.1277_1278insTATC (p.(Tyr427IlefsTer5)), HEXA(NM_001318825.1):c.1307_1310dupTATC (p.Y438Ifs*5) - HEXA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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