Variant #0000787453 (NC_000011.9:g.33731839_33731841del, NM_203329.2:c.221_223del (CD59))
Individual ID |
00374236 |
Chromosome |
11 |
Allele |
Parent #2 |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.33731839_33731841del |
DNA change (hg38) |
g.33710293_33710295del |
Published as |
c.221_223delACG |
ISCN |
- |
DB-ID |
CD59_000008 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Johan den Dunnen |
Date created |
2021-05-24 20:06:48 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
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