NM_153240.5(NPHP3):c.1525-2A>G AND Nephronophthisis
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 9, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003749786.1
Allele description
NM_153240.5(NPHP3):c.1525-2A>G
Condition(s)
- Name:
- Nephronophthisis
- Synonyms:
- juvenile nephronophthisis
- Identifiers:
- MONDO: MONDO:0019005; MedGen: C0687120; OMIM: PS256100; Human Phenotype Ontology: HP:0000090
-
Homo sapiens ninjurin 1, mRNA (cDNA clone MGC:4033 IMAGE:2820092), complete cds
Homo sapiens ninjurin 1, mRNA (cDNA clone MGC:4033 IMAGE:2820092), complete cdsgi|13325241|gb|BC004440.1|Nucleotide
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Last Updated: Feb 28, 2024