Variant #0000184179 (NC_000023.10:g.148586646G>A, IDS(NM_000202.5):c.22C>T)

Individual ID 00114495
Chromosome X
Allele Parent #1
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.148586646G>A
DNA change (hg38) g.149505116G>A
Published as -
ISCN -
DB-ID IDS_000019 See all 3 reported entries
Variant remarks -
Reference PubMed: Filocamo 2001
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -EagI
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2009-11-28 19:57:45 +01:00 (CET)
Date last edited 2012-07-20 18:13:24 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDS NM_000202.5 +/. 1 c.22C>T r.22c>u p.Arg8*



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000114952 DNA SEQ - - IDS 1 Johan den Dunnen