NM_002547.3(OPHN1):c.2105C>A (p.Pro702His) AND Inborn genetic diseases
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 3, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002859799.2
Allele description [Variation Report for NM_002547.3(OPHN1):c.2105C>A (p.Pro702His)]
NM_002547.3(OPHN1):c.2105C>A (p.Pro702His)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Jun 23, 2024