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.1518A>G r.(?) p.(Glu506=) Unknown - benign g.72637795T>C g.72345454T>C HEXA(NM_000520.5):c.1518A>G (p.E506=), HEXA(NM_000520.6):c.1518A>G (p.E506=) - HEXA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1518A>G r.(?) p.(Glu506=) Unknown - benign g.72637795T>C g.72345454T>C HEXA(NM_000520.5):c.1518A>G (p.E506=), HEXA(NM_000520.6):c.1518A>G (p.E506=) - HEXA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1518A>G r.(?) p.(Glu506=) Unknown - benign g.72637795T>C g.72345454T>C HEXA(NM_000520.5):c.1518A>G (p.E506=), HEXA(NM_000520.6):c.1518A>G (p.E506=) - HEXA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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