Variant #0000184188 (NC_000023.10:g.(148000000_148176414)_(148738845_149000000)del, IDS(NM_000202.5):c.(?_-1)_(*1_?)del)

Individual ID 00114366
Chromosome X
Allele Maternal (confirmed)
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.(148000000_148176414)_(148738845_149000000)del
DNA change (hg38) -
Published as -
ISCN arr Xq28(148,176,414-148,738,845)x0 mat
DB-ID IDS_000188 See all 2 reported entries
Variant remarks 562 kb complete IDS/IDSP1 deletion, AFF2/FMR1 loci preserved
Reference PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016
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 Miguel Angel Alcántara-Ortigoza
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
IDS NM_000202.5 +/. _1_9_ c.(?_-1)_(*1_?)del r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000114823 DNA arrayCNV - - IDS 1 Miguel Angel Alcántara-Ortigoza