Variant #0000184210 (NC_000023.10:g.(147300000_147392284)_(149225394_149300000)del, IDS(NM_000202.5):c.(?_-217)_(*3982_?)del)

Individual ID 00114368
Chromosome X
Allele Maternal (inferred)
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.(147300000_147392284)_(149225394_149300000)del
DNA change (hg38) -
Published as -
ISCN arrXq28(147,392,284-149,225,394)x0
DB-ID IDS_000170
Variant remarks 1.83 Mb complete AFF2/IDS/IDSP1 contiguous deletion. FMR1 preserved
Reference PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016
ClinVar ID -
dbSNP ID -
Origin De novo
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.(?_-217)_(*3982_?)del r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000114825 DNA arrayCNV - - IDS 1 Miguel Angel Alcántara-Ortigoza