NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu) AND Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
- Germline classification:
- Likely 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:
- RCV000392822.13
Allele description [Variation Report for NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu)]
NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu)
Condition(s)
Assertion and evidence details
Last Updated: Apr 20, 2024