Variant #0000002988 (NC_000015.10:g.32079G>T, NM_000520.5:c.964G>T (HEXA))

Individual ID 00000742
Chromosome 15
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.32079G>T
Published as -
Reference L Y Chan et al.(2011)
DB-ID HEXA_000001
dbSNP ID rs772180415
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 2021-06-29 14:58:15 +08:00 (CST)
Date last edited 2021-08-01 13:17:30 +08:00 (CST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
HEXA NM_000520.5 +/. - c.964G>T - r.? p.(Asp322Tyr) Pathogenic/Likely pathogenic​



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000836 ? ? HEXA 2 Nur Aisyah Athirah