Annotation Detail
Information
- Associated Genes
- STK11
- Associated Variants
-
STK11 p.Pro281ArgfsTer6 (p.P281Rfs*6)
(
ENST00000326873.12,
ENST00000585465.3,
ENST00000652231.1,
ENST00000714322.1,
ENST00000714323.1 )
STK11 p.Pro281ArgfsTer6 (p.P281Rfs*6) ( ENST00000326873.12, ENST00000585465.3, ENST00000652231.1, ENST00000714322.1, ENST00000714323.1 ) - Associated Disease
- melanoma
- Source Database
- ClinVar
- Description
- NM_000455.5(STK11):c.842del (p.Pro281fs) AND Melanoma
- ClinVar Allele ID
- 190029
- ClinVar RefSeq Alternation Syntax
- NM_000455.5:c.842del
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003995678
- ClinVar Disease
- Melanoma
- Observed Origin Sample
- somatic
Drugs