Variant #0000578191 (NC_000017.10:g.42085140T>C, NAGS(NM_153006.2):c.1450T>C)

Individual ID 00248310
Chromosome 17
Allele Both (homozygous)
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.42085140T>C
DNA change (hg38) g.44007772T>C
Published as -
ISCN -
DB-ID NAGS_000015 See all 7 reported entries
Variant remarks 5% residual enzyme activity
Reference PubMed: Van Leynseele 2014
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johannes Häberle
Database submission license No license selected
Created by Johannes Häberle
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NAGS NM_153006.2 +/. 6 c.1450T>C r.(?) p.(Trp484Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000249415 DNA SEQ - - NAGS 1 Johannes Häberle