Variant #0000000441 (NC_000017.10:g.40695468C>T, NAGLU(NM_000263.3):c.1444C>T)

Individual ID 00000217
Chromosome 17
Allele Both (homozygous)
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.40695468C>T
Reference -
DB-ID NAGLU_000011 See all 2 reported entries
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
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Clinical classification     
NAGLU NM_000263.3 ./. - c.1444C>T r.(?) p.(Arg482Trp) pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000220 DNA SEQ-NG NAGLU 1 Variome.ir