Variant #0000729812 (NC_000011.9:g.46724694_46724705del, NM_024741.2:c.553_564del (ZNF408))
Individual ID |
00331311 |
Chromosome |
11 |
Allele |
Parent #1 |
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.46724694_46724705del |
DNA change (hg38) |
g.46703144_46703155del |
Published as |
552_563del |
ISCN |
- |
DB-ID |
ZNF408_000045 |
Variant remarks |
variant found in unaffected members |
Reference |
PubMed: Su 2018 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
no |
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 |
2021-02-11 12:10:29 +01:00 (CET) |
Date last edited |
N/A |

Variant on transcripts
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