Variant #0000132608 (NC_000017.10:g.40474431T>G, STAT3(NM_139276.2):c.1970A>C)
Individual ID |
00081775 |
Chromosome |
17 |
Allele |
Unknown |
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.40474431T>G |
DNA change (hg38) |
g.42322413T>G |
Published as |
- |
ISCN |
- |
DB-ID |
STAT3_000004 See all 2 reported entries |
Variant remarks |
- |
Reference |
PubMed: Liu 2011 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
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 |
2016-10-22 16:33:40 +02:00 (CEST) |
Date last edited |
2019-07-27 11:49:25 +02:00 (CEST) |

Variant on transcripts
Screenings
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