NM_033380.3(COL4A5):c.2833G>T (p.Glu945Ter) AND X-linked Alport syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002497891.1
Allele description [Variation Report for NM_033380.3(COL4A5):c.2833G>T (p.Glu945Ter)]
NM_033380.3(COL4A5):c.2833G>T (p.Glu945Ter)
Condition(s)
-
conserved oligomeric Golgi complex subunit 5 [Pimephales promelas]
conserved oligomeric Golgi complex subunit 5 [Pimephales promelas]gi|1992508174|ref|XP_039516470.1|Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 29, 2024