NM_000278.5(PAX2):c.389C>G (p.Pro130Arg) AND Renal coloboma syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003991814.1
Allele description
NM_000278.5(PAX2):c.389C>G (p.Pro130Arg)
Condition(s)
- Name:
- Renal coloboma syndrome (PAPRS)
- Synonyms:
- RENAL-COLOBOMA SYNDROME WITH MACULAR ABNORMALITIES; Papillorenal syndrome; Optic nerve coloboma with renal disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007352; MedGen: C1852759; Orphanet: 1475; OMIM: 120330
Assertion and evidence details
Last Updated: Apr 15, 2024