Variant #0000683188 (NC_000020.10:g.(?_9085395)_(11982624_?)del, NM_000214.2:c.-516_*1814{0} (JAG1))
Individual ID |
00307637 |
Chromosome |
20 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(?_9085395)_(11982624_?)del |
DNA change (hg38) |
- |
Published as |
gross deletion 9085395-11982624 |
ISCN |
- |
DB-ID |
JAG1_000000 See all 23 reported entries |
Variant remarks |
- |
Reference |
PubMed: Ohashi 2017 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Johan den Dunnen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2020-08-17 09:33:27 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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