NM_015102.5(NPHP4):c.4028G>A (p.Gly1343Glu) AND Nephronophthisis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001066685.8
Allele description [Variation Report for NM_015102.5(NPHP4):c.4028G>A (p.Gly1343Glu)]
NM_015102.5(NPHP4):c.4028G>A (p.Gly1343Glu)
Condition(s)
- Name:
- Nephronophthisis
- Synonyms:
- juvenile nephronophthisis
- Identifiers:
- MONDO: MONDO:0019005; MedGen: C0687120; OMIM: PS256100; Human Phenotype Ontology: HP:0000090
-
RecName: Full=Protein FosB; AltName: Full=FosB proto-oncogene, AP-1 transcriptio...
RecName: Full=Protein FosB; AltName: Full=FosB proto-oncogene, AP-1 transcription factor subunit; AltName: Full=G0/G1 switch regulatory protein 3; AltName: Full=Transcription factor AP-1 subunit FosBgi|1706888|sp|P53539.1|FOSB_HUMANProtein
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Last Updated: Feb 20, 2024