Variant #0000578200 (NC_000017.10:g.42085972C>T, NAGS(NM_153006.2):c.*3C>T)

Individual ID 00248319
Chromosome 17
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.42085972C>T
DNA change (hg38) g.44008604C>T
Published as -
ISCN -
DB-ID NAGS_000008 See all 4 reported entries
Variant remarks -
Reference PubMed: Mitchell 2009
ClinVar ID -
dbSNP ID rs186636
Origin Germline
Segregation -
Frequency 0.25
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.56234 View details
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-04-03 19:07:14 +02:00 (CEST)
Date last edited 2019-07-19 17:04:09 +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.*3C>T r.(?) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000249424 DNA SEQ;SSCA - - NAGS 1 Johan den Dunnen