NM_001845.6(COL4A1):c.2124G>A (p.Gly708=) AND Brain small vessel disease 1 with or without ocular anomalies
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000367742.3
Allele description
NM_001845.6(COL4A1):c.2124G>A (p.Gly708=)
Condition(s)
- Name:
- Brain small vessel disease 1 with or without ocular anomalies (BSVD1)
- Synonyms:
- Hemiplegia, infantile, with porencephaly; RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT; Autosomal Dominant Type 1 Porencephaly
- Identifiers:
- MONDO: MONDO:0008289; MedGen: C4551998; Orphanet: 2940; Orphanet: 99810; OMIM: 175780
Assertion and evidence details
Last Updated: May 24, 2022