Variant #0000091187 (NC_000017.10:g.42085916G>A, NAGS(NM_153006.2):c.1552G>A)

Individual ID 00060222
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.42085916G>A
DNA change (hg38) g.44008548G>A
Published as -
ISCN -
DB-ID NAGS_000025 See all 2 reported entries
Variant remarks -
Reference PubMed: Schmidt 2005
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Johannes Häberle
Database submission license No license selected
Created by Johannes Häberle
Date created 2016-03-11 15:53:54 +01:00 (CET)
Date last edited 2019-07-21 10:26:35 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NAGS NM_153006.2 +/. 7 c.1552G>A r.(?) p.(Ala518Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000060209 DNA SEQ - - NAGS 1 Johannes Häberle