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.1306A>G r.(?) p.(Ile436Val) - benign g.72638892T>C g.72346551T>C HEXA(NM_000520.5):c.1306A>G (p.I436V), HEXA(NM_000520.6):c.1306A>G (p.I436V) - HEXA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1306A>G r.(?) p.(Ile436Val) - benign g.72638892T>C g.72346551T>C HEXA(NM_000520.5):c.1306A>G (p.I436V), HEXA(NM_000520.6):c.1306A>G (p.I436V) - HEXA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1306A>G r.(?) p.(Ile436Val) - benign g.72638892T>C g.72346551T>C HEXA(NM_000520.5):c.1306A>G (p.I436V), HEXA(NM_000520.6):c.1306A>G (p.I436V) - HEXA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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