Full data view for gene HEXA

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.1073+1G>A r.(=) p.(=) Unknown - VUS g.72640388C>T g.72348047C>T INTRON 9, IVS9+1G>A, CHR15:70427442G>A - HEXA_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.1073+1G>A r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - -
+/. - c.1073+1G>A r.(?) p.(?) Unknown ACMG pathogenic g.72640388C>T g.72348047C>T - - HEXA_000001 ACMG: PVS1,PM2,PM3; phase unknown, sister also affected - - rs76173977 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
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