Variant #0000184156 (NC_000023.10:g.(148568630_148571844)_(148586884_?)inv, IDS(NM_000202.5):c.(?_-217)_(1006+1_1107-1)inv)

Individual ID 00114362
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.(148568630_148571844)_(148586884_?)inv
DNA change (hg38) -
Published as IDS inversion IDSP1-mediated
ISCN -
DB-ID IDS_000000 See all 5 reported entries
Variant remarks IDS inversion IDSP1-mediated.
Reference PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site HinfI
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_7i c.(?_-217)_(1006+1_1107-1)inv r.? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000114819 DNA PCRdig - - IDS 1 Miguel Angel Alcántara-Ortigoza