Annotation Detail

Information
Associated Genes
GLI3
Associated Variants
GLI3 c.474-4C>T ( ENST00000395925.8, ENST00000479210.1, ENST00000677288.1, ENST00000677605.1 )
GLI3 c.474-4C>T ( ENST00000395925.8, ENST00000479210.1, ENST00000677288.1, ENST00000677605.1 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000168.6(GLI3):c.474-4C>T AND not provided
ClinVar Allele ID
311286
ClinVar RefSeq Alternation Syntax
NM_000168.6:c.474-4C>T
Clinical Significance Description
Likely benign
Clinical Significance Last Update
2020-10-06
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001705531
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs