Variant #0000000395 (NC_000005.9:g.78280882C>G, ARSB(NM_000046.3):c.190G>C)

Individual ID 00000174
Chromosome 5
Allele Parent #1
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.78280882C>G
Reference -
DB-ID ARSB_000020
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Clinical classification     
ARSB NM_000046.3 ./. - c.190G>C r.(?) p.(Gly64Arg) likely pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000178 DNA SEQ ARSB 2 Variome.ir