Variant #0000172985 (NC_000004.11:g.980913T>G, IDUA(NM_000203.3):c.41T>G)

Individual ID 00106745
Chromosome 4
Allele Unknown
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.980913T>G
DNA change (hg38) g.987125T>G
Published as -
ISCN -
DB-ID IDUA_000059
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 13:18:39 +02:00 (CEST)
Date last edited 2017-07-14 11:04:28 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDUA NM_000203.3 +?/. 1 c.41T>G r.(?) p.(Leu14Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000107216 DNA SEQ - - IDUA 2 Arunabha Ghosh