Full data view for gene HEXB

Information The variants shown are described using the NM_000521.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     

Allele     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Template     

Technique     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Remarks     

Microattribution     

Panel size     

Owner     
+/. - c.1645G>A - r.(?) p.(Gly549Arg) Uncertain Significance Unknown g.86127G>A - Chermaine D Antony et al.(2017) HEXB_000002 rs398123448 - - DNA SEQ Sandhoff Disease Chermaine D Antony et al.(2017) M Malaysia - - - - 1 Nur Aisyah Athirah
+/. - c.1645G>A - r.(?) p.(Gly549Arg) Uncertain significance​ Unknown g.86127G>A - Chermaine D Antony et al.(2017) HEXB_000002 rs398123448 - - DNA SEQ Sandhoff Disease Chermaine D Antony et al.(2017) F Malaysia - - - - 1 Nur Aisyah Athirah
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