NM_000325.6(PITX2):c.*454C>T AND Cataract
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000382147.5
Allele description [Variation Report for NM_000325.6(PITX2):c.*454C>T]
NM_000325.6(PITX2):c.*454C>T
Condition(s)
- Name:
- Cataract
- Synonyms:
- Cataract (disease)
- Identifiers:
- MONDO: MONDO:0005129; MeSH: D002386; MedGen: C0086543; OMIM: PS116200; Human Phenotype Ontology: HP:0000518
Assertion and evidence details
Last Updated: May 1, 2024