NM_000278.5(PAX2):c.350G>A (p.Arg117Gln) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003075082.2
Allele description [Variation Report for NM_000278.5(PAX2):c.350G>A (p.Arg117Gln)]
NM_000278.5(PAX2):c.350G>A (p.Arg117Gln)
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: Feb 28, 2024