NM_153240.5(NPHP3):c.60C>T (p.Tyr20=) AND Nephronophthisis
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003859084.1
Allele description [Variation Report for NM_153240.5(NPHP3):c.60C>T (p.Tyr20=)]
NM_153240.5(NPHP3):c.60C>T (p.Tyr20=)
Condition(s)
- Name:
- Nephronophthisis
- Synonyms:
- juvenile nephronophthisis
- Identifiers:
- MONDO: MONDO:0019005; MedGen: C0687120; OMIM: PS256100; Human Phenotype Ontology: HP:0000090
-
SLC43A1 solute carrier family 43 member 1 [Homo sapiens]
SLC43A1 solute carrier family 43 member 1 [Homo sapiens]Gene ID:8501Gene
-
Gene Links for GEO Profiles (Select 128761088) (1)
Gene
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Last Updated: Mar 5, 2024