Variant #0001019043 (NC_000023.10:g.(148579839_148582479)_(148586884_?)del, NM_000202.5:c.(?_-217)_(507+1_508-1) (IDS))
Individual ID |
00458465 |
Chromosome |
X |
Allele |
Unknown |
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.(148579839_148582479)_(148586884_?)del |
DNA change (hg38) |
g.(149498308_149500948)_(149505354_?)del |
Published as |
del ex1-4 |
ISCN |
- |
DB-ID |
IDS_000782 See all 2 reported entries |
Variant remarks |
IDS activity plasma 1.9 (reference 297-705 nmol/4h/ml) |
Reference |
PubMed: Semyachkina 2021 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2024-12-13 15:15:09 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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