NM_001845.6(COL4A1):c.1991G>A (p.Gly664Glu) AND Brain small vessel disease 1 with or without ocular anomalies
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jun 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003232909.2
Allele description [Variation Report for NM_001845.6(COL4A1):c.1991G>A (p.Gly664Glu)]
NM_001845.6(COL4A1):c.1991G>A (p.Gly664Glu)
Condition(s)
Assertion and evidence details
Last Updated: Jun 23, 2024