Variant #0000184188 (NC_000023.10:g.(148000000_148176414)_(148738845_149000000)del, IDS(NM_000202.5):c.(?_-1)_(*1_?)del)
Individual ID |
00114366 |
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.(148000000_148176414)_(148738845_149000000)del |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
arr Xq28(148,176,414-148,738,845)x0 mat |
DB-ID |
IDS_000188 See all 2 reported entries |
Variant remarks |
562 kb complete IDS/IDSP1 deletion, AFF2/FMR1 loci preserved |
Reference |
PubMed: Alcántara-Ortigoza 2016, Journal: Alcántara-Ortigoza 2016 |
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 |
Date created |
2015-08-05 20:28:19 +02:00 (CEST) |
Date last edited |
2017-11-03 16:53:08 +01:00 (CET) |

Variant on transcripts
Screenings
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