NM_182894.3(VSX2):c.599G>C (p.Arg200Pro) AND Microphthalmia, cataracts, and iris abnormalities
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 1, 2007
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000015986.26
Allele description [Variation Report for NM_182894.3(VSX2):c.599G>C (p.Arg200Pro)]
NM_182894.3(VSX2):c.599G>C (p.Arg200Pro)
Condition(s)
- Name:
- Microphthalmia, cataracts, and iris abnormalities
- Identifiers:
- MedGen: C1864722
Assertion and evidence details
Last Updated: Oct 13, 2024