NM_001034853.2(RPGR):c.2966del (p.Glu989fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Feb 1, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002275325.16
Allele description [Variation Report for NM_001034853.2(RPGR):c.2966del (p.Glu989fs)]
NM_001034853.2(RPGR):c.2966del (p.Glu989fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
RecName: Full=E3 ubiquitin-protein ligase RBBP6; AltName: Full=Proliferation pot...
RecName: Full=E3 ubiquitin-protein ligase RBBP6; AltName: Full=Proliferation potential-related protein; AltName: Full=Protein P2P-R; AltName: Full=RING-type E3 ubiquitin transferase RBBP6; AltName: Full=Retinoblastoma-binding Q protein 1; Short=RBQ-1; AltName: Full=Retinoblastoma-binding protein 6; AltName: Full=p53-associated cellular protein of testisgi|74762440|sp|Q7Z6E9.1|RBBP6_HUMANProtein
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Last Updated: Oct 8, 2024