NM_020989.4(CRYGC):c.143G>A (p.Arg48His) AND Nuclear pulverulent cataract
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Nov 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001523398.7
Allele description [Variation Report for NM_020989.4(CRYGC):c.143G>A (p.Arg48His)]
NM_020989.4(CRYGC):c.143G>A (p.Arg48His)
Condition(s)
- Name:
- Nuclear pulverulent cataract (CTRCT2)
- Identifiers:
- MedGen: C1852438; Human Phenotype Ontology: HP:0010698
Assertion and evidence details
Last Updated: Sep 29, 2024