NM_001845.6(COL4A1):c.*6C>G AND Brain small vessel disease 1 with or without ocular anomalies
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000400136.3
Allele description
NM_001845.6(COL4A1):c.*6C>G
Condition(s)
- Name:
- Brain small vessel disease 1 with or without ocular anomalies (BSVD1)
- Synonyms:
- Hemiplegia, infantile, with porencephaly; COL4A1-Related Disorders; RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0008289; MedGen: C4551998; Orphanet: 2940; Orphanet: 99810; OMIM: 175780
Assertion and evidence details
Last Updated: Apr 23, 2022