Variant #0000172982 (NC_000004.11:g.980873A>G, IDUA(NM_000203.3):c.1A>G)
Individual ID |
00106742 |
Chromosome |
4 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.980873A>G |
DNA change (hg38) |
g.987085A>G |
Published as |
- |
ISCN |
- |
DB-ID |
IDUA_000056 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Arunabha Ghosh |
Database submission license |
No license selected |
Created by |
Arunabha Ghosh |
Date created |
2017-07-11 12:51:30 +02:00 (CEST) |
Date last edited |
2017-07-14 11:09:54 +02:00 (CEST) |

Variant on transcripts
Screenings
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