Annotation Detail
Information
- Associated Genes
- GLI3
- Associated Variants
-
GLI3 p.Glu81Lys (p.E81K)
(
ENST00000395925.8,
ENST00000479210.1,
ENST00000642432.1,
ENST00000647255.1,
ENST00000677288.1,
ENST00000677605.1 )
GLI3 p.Glu81Lys (p.E81K) ( ENST00000395925.8, ENST00000479210.1, ENST00000642432.1, ENST00000647255.1, ENST00000677288.1, ENST00000677605.1 ) - Associated Disease
- Greig cephalopolysyndactyly syndrome Polysyndactyly 4 Polydactyly, postaxial, type A1 Hamartoma of hypothalamus Pallister-Hall syndrome
- Source Database
- ClinVar
- Description
- NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) AND multiple conditions
- ClinVar Allele ID
- 259864
- ClinVar RefSeq Alternation Syntax
- NM_000168.6:c.241G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-10-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000764716
- ClinVar Disease
- Polysyndactyly 4
- ClinVar Disease
- Greig cephalopolysyndactyly syndrome
- ClinVar Disease
- Polydactyly, postaxial, type A1
- ClinVar Disease
- Hamartoma of hypothalamus
- ClinVar Disease
- Pallister-Hall syndrome
- Observed Origin Sample
- unknown
Drugs