NM_033380.3(COL4A5):c.677A>C (p.Lys226Thr) AND X-linked Alport syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jul 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001829991.2
Allele description [Variation Report for NM_033380.3(COL4A5):c.677A>C (p.Lys226Thr)]
NM_033380.3(COL4A5):c.677A>C (p.Lys226Thr)
Condition(s)
-
ClinVar for Gene (Select 90678) (923)
ClinVar
-
Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), ...
Homo sapiens leucine rich repeat and sterile alpha motif containing 1 (LRSAM1), transcript variant 7, mRNAgi|1847688215|ref|NM_001384144.1|Nucleotide
-
E3 ubiquitin-protein ligase LRSAM1 isoform 4 [Homo sapiens]
E3 ubiquitin-protein ligase LRSAM1 isoform 4 [Homo sapiens]gi|1847688216|ref|NP_001371073.1|Protein
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Last Updated: Sep 29, 2024