Variant #0000089078 (NC_000017.10:g.42083077A>G, NAGS(NM_153006.2):c.499A>G)

Individual ID 00058532
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.42083077A>G
DNA change (hg38) g.44005709A>G
Published as -
ISCN -
DB-ID NAGS_000020
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) 1.0E-5 View details
Owner Johannes Häberle
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-01-28 01:00:41 +01:00 (CET)
Date last edited 2019-07-21 11:23:05 +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 ?/. 2 c.499A>G r.(?) p.(Met167Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000058495 DNA DSCA;SEQ - - NAGS 2 Johannes Häberle