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.1073+1G>A r.(=) p.(=) - VUS g.72640388C>T g.72348047C>T INTRON 9, IVS9+1G>A, CHR15:70427442G>A - HEXA_000001 - - - - Germline - - - - - Gerard C.P. Schaafsma
+/. - c.1073+1G>A r.spl? p.? - pathogenic g.72640388C>T g.72348047C>T HEXA(NM_000520.6):c.1073+1G>A - HEXA_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.1073+1G>A r.(?) p.(?) ACMG pathogenic g.72640388C>T g.72348047C>T - - HEXA_000001 ACMG: PVS1,PM2,PM3; phase unknown, sister also affected - - rs76173977 Germline - - - 0 - Andreas Laner
+/. - c.1073+1G>A r.spl? p.? ACMG pathogenic (recessive) g.72640388C>T - - - HEXA_000001 ACMG: PVS1, PS4, PM3, PM2_SUP, PP1 PMID: 8490625, 1387685, 19858779, 8444467, 1301938 Variation ID: 3920 - Germline ? - - - - Andreas Laner
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