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 |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Miguel Angel Alcántara-Ortigoza |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Miguel Angel Alcántara-Ortigoza |

Variant on transcripts
Screenings
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