Variant #0000128889 (NC_000017.10:g.40474429_40474431dup, STAT3(NM_139276.2):c.1971_1973dup)
Individual ID |
00079932 |
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.40474429_40474431dup |
DNA change (hg38) |
g.42322411_42322413dup |
Published as |
1971_1972insTAT |
ISCN |
- |
DB-ID |
STAT3_000003 |
Variant remarks |
- |
Reference |
PubMed: Koskela 2012 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Jelena Čalyševa |
Database submission license |
No license selected |
Created by |
Jelena Čalyševa |
Date created |
2016-08-29 10:06:19 +02:00 (CEST) |
Date last edited |
2020-07-13 13:56:15 +02:00 (CEST) |

Variant on transcripts
Screenings
|
|