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 International |
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) |

Variant on transcripts
Screenings
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