Variant #0000003061 (NC_000005.10:g.83794_83798delTTGAA, NM_000521.4:c.1262_1266delTTGAA (HEXB))

Individual ID 00000787
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.83794_83798delTTGAA
Published as -
Reference Chermaine D Antony et al.(2017)
DB-ID HEXB_000001 See all 2 reported entries
dbSNP ID -
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-07-15 14:38:32 +08:00 (CST)
Date last edited 2021-07-25 13:24:48 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
HEXB NM_000521.4 +/. - c.1262_1266delTTGAA c.1262_1266delGTTGAA r.(?) p.(Val421Glyfs*9) -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000882 DNA SEQ HEXB 2 Nur Aisyah Athirah