NM_000266.4(NDP):c.314C>T (p.Ala105Val) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 3, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000415329.1
Allele description
NM_000266.4(NDP):c.314C>T (p.Ala105Val)
Condition(s)
- Name:
- Persistent hyperplastic primary vitreous
- Synonyms:
- Remnants of the hyaloid vascular system
- Identifiers:
- MONDO: MONDO:0019631; MedGen: C0266568; OMIM: PS221900; Human Phenotype Ontology: HP:0007968
- Name:
- Nystagmus
- Identifiers:
- MONDO: MONDO:0004843; MedGen: C0028738; Human Phenotype Ontology: HP:0000639
- Name:
- Short lingual frenulum
- Identifiers:
- MedGen: C0426501; Human Phenotype Ontology: HP:0000200
- Name:
- High myopia
- Synonyms:
- Severe Myopia
- Identifiers:
- MedGen: C0271183; Human Phenotype Ontology: HP:0011003
Assertion and evidence details
Last Updated: Jul 2, 2022