NM_033380.3(COL4A5):c.647G>A (p.Gly216Glu) AND X-linked Alport syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 29, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002499206.8
Allele description [Variation Report for NM_033380.3(COL4A5):c.647G>A (p.Gly216Glu)]
NM_033380.3(COL4A5):c.647G>A (p.Gly216Glu)
Condition(s)
-
Homo sapiens ubiquitin conjugating enzyme E2 E2 (UBE2E2), transcript variant 1, ...
Homo sapiens ubiquitin conjugating enzyme E2 E2 (UBE2E2), transcript variant 1, mRNAgi|1519244774|ref|NM_152653.4|Nucleotide
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Sep 16, 2024