Variant #0000877449 (NC_000019.9:g.1207053dup, NM_000455.4:c.141dup (STK11))
Individual ID |
00416445 |
Chromosome |
19 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
likely pathogenic (dominant) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.1207053dup |
DNA change (hg38) |
g.1207054dup |
Published as |
- |
ISCN |
- |
DB-ID |
STK11_000886 |
Variant remarks |
ACMG: PVS1, PM2_SUP |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Andreas Laner |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Andreas Laner |
Date created |
2022-08-31 11:05:16 +02:00 (CEST) |
Date last edited |
2022-09-05 14:14:40 +02:00 (CEST) |

Variant on transcripts
Screenings
|