Variant #0000173059 (NC_000004.11:g.981665A>G, IDUA(NM_000203.3):c.227A>G)

Individual ID 00106797
Chromosome 4
Allele Parent #2
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.981665A>G
DNA change (hg38) g.987877A>G
Published as -
ISCN -
DB-ID IDUA_000005
Variant remarks -
Reference PubMed: Bertola 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Gerard C.P. Schaafsma
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
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)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDUA NM_000203.3 ?/. 2 c.227A>G r.(?) p.(Tyr76Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000107268 DNA SEQ - - IDUA 2 Gerard C.P. Schaafsma