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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDUA NM_000203.3 +?/. _1_14_ c.(?_-88)_(*136_?)del r.(?) p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000072367 DNA MLPA - - IDUA 2 Jill Urquhart