NM_033641.4(COL4A6):c.1384G>A (p.Glu462Lys) AND COL4A6-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 26, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003954010.1
Allele description [Variation Report for NM_033641.4(COL4A6):c.1384G>A (p.Glu462Lys)]
NM_033641.4(COL4A6):c.1384G>A (p.Glu462Lys)
Condition(s)
- Name:
- COL4A6-related disorder
- Synonyms:
- COL4A6-related condition
- Identifiers:
Assertion and evidence details
Last Updated: May 26, 2024