Variant #0000735946 (NC_000023.10:g.(?_18657808)_(18690223_?)del, NM_000330.3:c.(?_-35)_(*2316_?)del (RS1))
Individual ID |
00335321 |
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(?_18657808)_(18690223_?)del |
DNA change (hg38) |
g.(?_18639688)_(18672103_?)del |
Published as |
- |
ISCN |
- |
DB-ID |
RS1_000023 |
Variant remarks |
large deletion chrX (p22.2-p22.13) including OFD1 and RS1 |
Reference |
PubMed: Bravo-Gil 2017 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Nereida Bravo Gil |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2021-03-04 16:18:39 +01:00 (CET) |
Date last edited |
2024-12-22 10:53:37 +01:00 (CET) |

Variant on transcripts
Screenings
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|