NM_033380.3(COL4A5):c.3460G>T (p.Gly1154Ter) AND X-linked Alport syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002306924.2
Allele description [Variation Report for NM_033380.3(COL4A5):c.3460G>T (p.Gly1154Ter)]
NM_033380.3(COL4A5):c.3460G>T (p.Gly1154Ter)
Condition(s)
-
serine/threonine-protein kinase 4 isoform X2 [Rattus norvegicus]
serine/threonine-protein kinase 4 isoform X2 [Rattus norvegicus]gi|1958762213|ref|XP_038961058.1|Protein
-
transcription factor [Klebsormidium nitens]
transcription factor [Klebsormidium nitens]gi|971515402|dbj|GAQ82768.1|Protein
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023