NM_002547.3(OPHN1):c.1224C>A (p.Tyr408Ter) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003845720.1
Allele description [Variation Report for NM_002547.3(OPHN1):c.1224C>A (p.Tyr408Ter)]
NM_002547.3(OPHN1):c.1224C>A (p.Tyr408Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Mar 5, 2024