ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.3(chr19:1143045-1215323)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
STK11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2312 | 2580 | |
LOC108254692 | - | - | - | GRCh38 | - | 13 |
LOC110006317 | - | - | - | GRCh38 | - | 22 |
LOC112543439 | - | - | - | GRCh38 | - | 15 |
LOC125371446 | - | - | - | GRCh38 | - | 13 |
LOC125371447 | - | - | - | GRCh38 | - | 25 |
LOC126862837 | - | - | - | GRCh38 | - | 13 |
LOC130062888 | - | - | - | GRCh38 | - | 13 |
LOC130062889 | - | - | - | GRCh38 | - | 13 |
LOC130062890 | - | - | - | GRCh38 | - | 13 |
There are 9 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000054106.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023