Variant #0000578179 (NC_000017.10:g.42085858G>A, NAGS(NM_153006.2):c.1494G>A)

Individual ID 00248298
Chromosome 17
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.42085858G>A
DNA change (hg38) g.44008490G>A
Published as -
ISCN -
DB-ID NAGS_000049 See all 2 reported entries
Variant remarks no variant 2nd allele identified
Reference PubMed: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NAGS NM_153006.2 +/. - c.1494G>A r.1494g>a p.Trp498*



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000249403 DNA;RNA RT-PCR;SEQ - - NAGS 1 Johan den Dunnen