Variant #0000000482 (NC_000005.9:g.78181570G>A, ARSB(NM_000046.3):c.979C>T)

Individual ID 00000255
Chromosome 5
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.78181570G>A
Reference -
DB-ID ARSB_000027
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Variome.ir
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Variome.ir
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Clinical classification     
ARSB NM_000046.3 ./. - c.979C>T r.(?) p.(Arg327*) pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000258 DNA SEQ-NG ARSB 1 Variome.ir