Annotation Detail
Information
- Associated Genes
- GNAQ
- Associated Variants
-
GNAQ p.Gln209Pro (p.Q209P)
(
ENST00000286548.9 )
GNAQ p.Gln209Pro (p.Q209P) ( ENST00000286548.9 ) - Associated Disease
- uveal melanoma
- Source Database
- ClinVar
- Description
- NM_002072.5(GNAQ):c.626A>C (p.Gln209Pro) AND Uveal melanoma
- ClinVar Allele ID
- 362836
- ClinVar RefSeq Alternation Syntax
- NM_002072.5:c.626A>C
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2015-07-14
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000436033
- ClinVar Disease
- Uveal melanoma
- Observed Origin Sample
- somatic
Drugs