Variant #0000578188 (NC_000017.10:g.42085140T>C, NAGS(NM_153006.2):c.1450T>C)
Individual ID |
00248307 |
Chromosome |
17 |
Allele |
Both (homozygous) |
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.42085140T>C |
DNA change (hg38) |
g.44007772T>C |
Published as |
- |
ISCN |
- |
DB-ID |
NAGS_000015 See all 7 reported entries |
Variant remarks |
5% residual enzyme activity |
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 11:59:30 +01:00 (CET) |
Date last edited |
2019-07-19 17:03:22 +02:00 (CEST) |

Variant on transcripts
Screenings
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