Variant #0000184221 (NC_000023.10:g.(148585824_148586564)_(148586884_?)del, IDS(NM_000202.5):c.(?_-217)_(103+1_104-1)del))

Individual ID 00114369
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.(148585824_148586564)_(148586884_?)del
DNA change (hg38) -
Published as exon 1 deletion
ISCN -
DB-ID IDS_000169
Variant remarks exon 1 deletion, breakpoint not sequenced
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_1i c.(?_-217)_(103+1_104-1)del) r.0? p.0?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000114826 DNA PCR - - IDS 1 Miguel Angel Alcántara-Ortigoza