Variant #0000091191 (NC_000017.10:g.42083895A>T, NAGS(NM_153006.2):c.916-2A>T)
Individual ID |
00060226 |
Chromosome |
17 |
Allele |
Parent #1 |
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.42083895A>T |
DNA change (hg38) |
g.44006527A>T |
Published as |
- |
ISCN |
- |
DB-ID |
NAGS_000011 |
Variant remarks |
- |
Reference |
PubMed: Häberle 2003, PubMed: Häberle 2003 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
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 |
2016-03-11 16:14:32 +01:00 (CET) |
Date last edited |
2020-07-13 16:32:43 +02:00 (CEST) |

Variant on transcripts
Screenings
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