Annotation Detail
Information
- Associated Genes
- GLI3
- Associated Variants
-
GLI3 p.Asn503= (p.N503=)
(
ENST00000479210.1,
ENST00000395925.8,
ENST00000677288.1,
ENST00000677605.1 )
GLI3 p.Asn503= (p.N503=) ( ENST00000677288.1, ENST00000395925.8, ENST00000479210.1, ENST00000677605.1 ) - Associated Disease
- polydactyly
- Source Database
- ClinVar
- Description
- NM_000168.6(GLI3):c.1509C>T (p.Asn503=) AND Polydactyly
- ClinVar Allele ID
- 252864
- ClinVar RefSeq Alternation Syntax
- NM_000168.6:c.1509C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-01-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000386512
- ClinVar Disease
- Polydactyly
- Observed Origin Sample
- germline
Drugs