Variant #0000184263 (NC_000023.10:g.148569718_148585611delins148606691_148608805, IDS(NM_000202.5):c.240+76_1007-1089delins[KT724868:g.261_2375])

Individual ID 00114374
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.148569718_148585611delins148606691_148608805
DNA change (hg38) -
Published as NG_011900.3:g.6129_22625delinsAC244197.3:g.45710_48426
ISCN -
DB-ID IDS_000171
Variant remarks chimeric IDS-IDSP1 allele replacing IDS exons 4 to 7 with a partial IDSP1 insertion (KT724868)
Reference PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016, GenBank KT724868
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 +/. 3i_7i c.240+76_1007-1089delins[KT724868:g.261_2375] r.(?) p.(Gln81Glyfs*4)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000114831 DNA PCR;SEQ - - IDS 2 Miguel Angel Alcántara-Ortigoza