Variant #0000578188 (NC_000017.10:g.42085140T>C, NAGS(NM_153006.2):c.1450T>C)

Individual ID 00248307
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: Sancho-Vaello 2016, Journal: Sancho-Vaello 2016
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
Date created 2016-02-01 11:59:30 +01:00 (CET)
Date last edited 2019-07-19 17:03:22 +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 +/. 6 c.1450T>C r.(?) p.(Trp484Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000249412 DNA SEQ - - NAGS 1 Johannes Häberle