Variant #0000173070 (NC_000004.11:g.981646C>T, IDUA(NM_000203.3):c.208C>T)

Individual ID 00106805
Chromosome 4
Allele Parent #1
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.981646C>T
DNA change (hg38) g.987858C>T
Published as -
ISCN -
DB-ID IDUA_000004 See all 39 reported entries
Variant remarks -
Reference PubMed: Scott 1992
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0005 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)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDUA NM_000203.3 ?/. 2 c.208C>T r.(?) p.(Gln70*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000107276 DNA SEQ - - IDUA 2 Gerard C.P. Schaafsma