Variant #0000184223 (NC_000023.10:g.148585003G>A, IDS(NM_000202.5):c.257C>T)

Individual ID 00114661
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.148585003G>A
DNA change (hg38) g.149503473G>A
Published as -
ISCN -
DB-ID IDS_000026 See all 7 reported entries
Variant remarks RNA level 0.7 of normal
Reference PubMed: Alves 2006
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Yu Sun
Database submission license No license selected
Created by Yu Sun
Date created 2009-11-30 16:39:12 +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 +/. 3 c.257C>T r.[257c>u, 241_284del] p.[Pro86Leu, Gln81Glufs*3]



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115118 DNA SEQ - - IDS 1 Yu Sun