NM_033380.3(COL4A5):c.3206G>T (p.Gly1069Val) AND X-linked Alport syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 10, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000021484.8
Allele description [Variation Report for NM_033380.3(COL4A5):c.3206G>T (p.Gly1069Val)]
NM_033380.3(COL4A5):c.3206G>T (p.Gly1069Val)
Condition(s)
-
ribonucleoside-diphosphate reductase large subunit isoform 2 [Homo sapiens]
ribonucleoside-diphosphate reductase large subunit isoform 2 [Homo sapiens]gi|968121915|ref|NP_001304993.1|Protein
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Last Updated: Sep 29, 2024