NM_033380.3(COL4A5):c.3782_3783del (p.Gly1261fs) AND X-linked Alport syndrome
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002309710.2
Allele description [Variation Report for NM_033380.3(COL4A5):c.3782_3783del (p.Gly1261fs)]
NM_033380.3(COL4A5):c.3782_3783del (p.Gly1261fs)
Condition(s)
-
ClinVar for Gene (Select 126806781) (16)
ClinVar
-
Camelina sativa strain CSC3H lignin biosynthesis (C3H) mRNA, partial cds
Camelina sativa strain CSC3H lignin biosynthesis (C3H) mRNA, partial cdsgi|1537685305|gb|MH167412.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Aug 5, 2023