NM_002547.3(OPHN1):c.1060G>A (p.Ala354Thr) AND not provided
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 10, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000731095.4
Allele description [Variation Report for NM_002547.3(OPHN1):c.1060G>A (p.Ala354Thr)]
NM_002547.3(OPHN1):c.1060G>A (p.Ala354Thr)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: CN517202
Assertion and evidence details
Last Updated: Apr 1, 2023