NM_001845.6(COL4A1):c.1360A>G (p.Ile454Val) AND Inborn genetic diseases
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004028344.1
Allele description [Variation Report for NM_001845.6(COL4A1):c.1360A>G (p.Ile454Val)]
NM_001845.6(COL4A1):c.1360A>G (p.Ile454Val)
Condition(s)
- Name:
- Inborn genetic diseases
- Identifiers:
- MeSH: D030342; MedGen: C0950123
Assertion and evidence details
Last Updated: Sep 8, 2024