Annotation Detail

Information
Associated Genes
RAC1
Associated Variants
RAC1 p.Pro29Ser (p.P29S) ( ENST00000348035.9, ENST00000356142.4, ENST00000704002.1 )
RAC1 p.Pro29Ser (p.P29S) ( ENST00000348035.9, ENST00000356142.4, ENST00000704002.1 )
Associated Disease
Squamous cell carcinoma of the head and neck
Source Database
ClinVar
Description
NM_006908.5(RAC1):c.85C>T (p.Pro29Ser) AND Squamous cell carcinoma of the head and neck
ClinVar Allele ID
363241
ClinVar RefSeq Alternation Syntax
NM_018890.4:c.85C>T
ClinVar RefSeq Alternation Syntax
NM_006908.5:c.85C>T
Clinical Significance Description
Likely pathogenic
Clinical Significance Last Update
2016-05-31
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000421644
ClinVar Disease
Squamous cell carcinoma of the head and neck
Observed Origin Sample
somatic
Drugs