Variant #0000173035 (NC_000004.11:g.980918_980929del, IDUA(NM_000203.3):c.46_57del)

Individual ID 00106782
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.980918_980929del
DNA change (hg38) g.987130_987141del
Published as 46_57del12
ISCN -
DB-ID IDUA_000003 See all 7 reported entries
Variant remarks -
Reference PubMed: Bunge 1994
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
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 ?/. 1 c.46_57del r.(?) p.(Ser16_A19del)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000107253 DNA SEQ - - IDUA 2 Gerard C.P. Schaafsma