Variant #0000089139 (NC_000017.10:g.42084766T>G, NAGS(NM_153006.2):c.1172T>G)

Individual ID 00058587
Chromosome 17
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.42084766T>G
DNA change (hg38) g.44007398T>G
Published as -
ISCN -
DB-ID NAGS_000036
Variant remarks -
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 16:26:26 +01:00 (CET)
Date last edited 2019-07-21 11:24:08 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NAGS NM_153006.2 ?/. 5 c.1172T>G r.(?) p.(Leu391Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000058550 DNA SEQ - - NAGS 2 Johannes Häberle