NM_000168.6(GLI3):c.563C>A (p.Ser188Tyr) AND GLI3-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004530774.1
Allele description [Variation Report for NM_000168.6(GLI3):c.563C>A (p.Ser188Tyr)]
NM_000168.6(GLI3):c.563C>A (p.Ser188Tyr)
Condition(s)
- Name:
- GLI3-related disorder
- Synonyms:
- GLI3-Related Disorders; GLI3-related condition
- Identifiers:
- MedGen: CN239292
-
BioProjects for Gene (Select 816152) (3)
BioProject
-
RBFA ribosome binding factor A [Homo sapiens]
RBFA ribosome binding factor A [Homo sapiens]Gene ID:79863Gene
-
Gene Links for GEO Profiles (Select 96934746) (1)
Gene
-
Turner syndrome amniocyte derived-induced pluripotent stem cells
Turner syndrome amniocyte derived-induced pluripotent stem cellsAccession: GDS4489GEO DataSets
-
Related DataSets for GEO Profiles (Select 96927008) (1)
GEO DataSets
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024