Variant #0000184183 (NC_000023.10:g.148586580_148586599del, IDS(NM_000202.5):c.71_90del)

Individual ID 00114639
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.148586580_148586599del
DNA change (hg38) g.149505050_149505069del
Published as 69_88del
ISCN -
DB-ID IDS_000136
Variant remarks -
Reference PubMed: Kim 2003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDS NM_000202.5 +/. 1 c.71_90del r.(?) p.Ala23fs



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000115096 DNA SEQ - - IDS 1 Johan den Dunnen