NM_001845.6(COL4A1):c.2955G>C (p.Gln985His) AND Porencephalic cyst
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000389348.13
Allele description [Variation Report for NM_001845.6(COL4A1):c.2955G>C (p.Gln985His)]
NM_001845.6(COL4A1):c.2955G>C (p.Gln985His)
Condition(s)
- Name:
- Porencephalic cyst
- Identifiers:
- MedGen: C4082172; Human Phenotype Ontology: HP:0002132
Assertion and evidence details
Last Updated: Apr 15, 2024