Variant #0000173030 (NC_000004.11:g.980918_980929del, IDUA(NM_000203.3):c.46_57del)
Individual ID |
00106779 |
Chromosome |
4 |
Allele |
Parent #1 |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.980918_980929del |
DNA change (hg38) |
g.987130_987141del |
Published as |
46_57del12 |
ISCN |
- |
DB-ID |
IDUA_000003 See all 7 reported entries |
Variant remarks |
- |
Reference |
PubMed: Bunge 1994 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Gerard C.P. Schaafsma |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2011-06-09 09:04:35 +02:00 (CEST) |
Date last edited |
2013-01-05 10:05:42 +01:00 (CET) |

Variant on transcripts
Screenings
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