All variants in the HEXA gene

Information The variants shown are described using the NM_000520.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.1338T>C r.(?) p.(Pro446=) - likely benign g.72638659A>G g.72346318A>G HEXA(NM_000520.6):c.1338T>C (p.P446=), HEXA(NM_001318825.1):c.1371T>C (p.P457=) - HEXA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1338T>C r.(?) p.(Pro446=) - likely benign g.72638659A>G - HEXA(NM_000520.6):c.1338T>C (p.P446=), HEXA(NM_001318825.1):c.1371T>C (p.P457=) - HEXA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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