Variant #0000000361 (NC_000017.10:g.40689489G>A, NAGLU(NM_000263.3):c.457G>A)

Individual ID 00000143
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.40689489G>A
Reference -
DB-ID NAGLU_000007
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.457G>A r.(?) p.(Glu153Lys) likely pathogenic



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000146 DNA SEQ-NG NAGLU 2 Variome.ir