Variant #0000172982 (NC_000004.11:g.980873A>G, IDUA(NM_000203.3):c.1A>G)

Individual ID 00106742
Chromosome 4
Allele Both (homozygous)
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.980873A>G
DNA change (hg38) g.987085A>G
Published as -
ISCN -
DB-ID IDUA_000056
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Arunabha Ghosh
Database submission license No license selected
Created by Arunabha Ghosh
Date created 2017-07-11 12:51:30 +02:00 (CEST)
Date last edited 2017-07-14 11:09:54 +02:00 (CEST)
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDUA NM_000203.3 +/. 1 c.1A>G r.(?) p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000107213 DNA SEQ - - IDUA 1 Arunabha Ghosh