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
- Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome
- Source Database
- ClinVar
- Description
- NM_000168.6(GLI3):c.474-4C>T AND multiple conditions
- ClinVar Allele ID
- 311286
- ClinVar RefSeq Alternation Syntax
- NM_000168.6:c.474-4C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2023-09-04
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000634039
- ClinVar Disease
- Greig cephalopolysyndactyly syndrome
- ClinVar Disease
- Pallister-Hall syndrome
- Observed Origin Sample
- germline
Drugs