NM_004431.5(EPHA2):c.*443T>C AND Cataract 6 multiple types
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000270600.5
Allele description [Variation Report for NM_004431.5(EPHA2):c.*443T>C]
NM_004431.5(EPHA2):c.*443T>C
Condition(s)
- Name:
- Cataract 6 multiple types
- Synonyms:
- Cataract, posterior polar, 1; CATARACT, AGE-RELATED CORTICAL, 2; CATARACT 6, POSTERIOR POLAR; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007288; MedGen: C1861825; Orphanet: 91492; OMIM: 116600
Assertion and evidence details
Last Updated: Dec 24, 2023