Variant #0000000468 (NC_000017.10:g.40695970G>A, NAGLU(NM_000263.3):c.1946G>A)

Individual ID 00000242
Chromosome 17
Allele Parent #1
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.40695970G>A
Reference -
DB-ID NAGLU_000013
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
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     
NAGLU NM_000263.3 ./. - c.1946G>A r.(?) p.(Trp649*) pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000245 DNA SEQ-NG NAGLU 2 Variome.ir