Variant #0000117527 (NC_000004.11:g.(?_980785)_(981738_994399)del, IDUA(NM_000203.3):c.(?_-88)_(299+1_300-1)del)

Individual ID 00072212
Chromosome 4
Allele Parent #2
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.(?_980785)_(981738_994399)del
DNA change (hg38) -
Published as -
ISCN -
DB-ID IDUA_000062
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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-06-14 13:43:09 +02:00 (CEST)
Date last edited 2017-07-14 11:08:13 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDUA NM_000203.3 +/. _1_2i c.(?_-88)_(299+1_300-1)del r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072367 DNA MLPA - - IDUA 2 Jill Urquhart