Variant #0000115927 (NC_000004.11:g.(?_980785)_(998317_?)del, IDUA(NM_000203.3):c.(?_-88)_(*136_?)del)
Individual ID |
00072212 |
Chromosome |
4 |
Allele |
Parent #1 |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(?_980785)_(998317_?)del |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
IDUA_000061 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Jill Urquhart |
Database submission license |
No license selected |
Created by |
Jill Urquhart |
Date created |
2016-06-01 08:52:29 +02:00 (CEST) |
Date last edited |
2016-06-14 13:44:45 +02:00 (CEST) |

Variant on transcripts
Screenings
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