NM_033380.3(COL4A5):c.3670G>T (p.Glu1224Ter) AND X-linked Alport syndrome
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001391162.1
Allele description [Variation Report for NM_033380.3(COL4A5):c.3670G>T (p.Glu1224Ter)]
NM_033380.3(COL4A5):c.3670G>T (p.Glu1224Ter)
Condition(s)
-
binding protein [Arabidopsis thaliana]
binding protein [Arabidopsis thaliana]gi|15234750|ref|NP_193324.1|Protein
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023