NM_178335.3(CCDC50):c.617C>T (p.Ser206Phe) AND not provided
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Jan 13, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001668384.17
Allele description [Variation Report for NM_178335.3(CCDC50):c.617C>T (p.Ser206Phe)]
NM_178335.3(CCDC50):c.617C>T (p.Ser206Phe)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
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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Last Updated: Sep 29, 2024