NM_001845.6(COL4A1):c.82A>G (p.Lys28Glu) 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:
- RCV002248600.11
Allele description [Variation Report for NM_001845.6(COL4A1):c.82A>G (p.Lys28Glu)]
NM_001845.6(COL4A1):c.82A>G (p.Lys28Glu)
Condition(s)
Assertion and evidence details
Last Updated: May 1, 2024