Variant #0000173070 (NC_000004.11:g.981646C>T, IDUA(NM_000203.3):c.208C>T)
Individual ID |
00106805 |
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.981646C>T |
DNA change (hg38) |
g.987858C>T |
Published as |
- |
ISCN |
- |
DB-ID |
IDUA_000004 See all 39 reported entries |
Variant remarks |
- |
Reference |
PubMed: Scott 1992 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.0005 View details |
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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