NM_033380.3(COL4A5):c.359G>A (p.Gly120Asp) AND X-linked Alport syndrome
- Germline classification:
- Likely pathogenic (2 submissions)
- Last evaluated:
- Jan 5, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003994694.2
Allele description [Variation Report for NM_033380.3(COL4A5):c.359G>A (p.Gly120Asp)]
NM_033380.3(COL4A5):c.359G>A (p.Gly120Asp)
Condition(s)
-
MULTISPECIES: N-acetylornithine carbamoyltransferase [Rhodanobacter]
MULTISPECIES: N-acetylornithine carbamoyltransferase [Rhodanobacter]gi|653306949|ref|WP_027484803.1|Protein
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Last Updated: Jul 29, 2024