NM_033380.3(COL4A5):c.600del (p.Gly201fs) AND X-linked Alport syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003991347.2
Allele description [Variation Report for NM_033380.3(COL4A5):c.600del (p.Gly201fs)]
NM_033380.3(COL4A5):c.600del (p.Gly201fs)
Condition(s)
-
Homo sapiens regucalcin (senescence marker protein-30) (RGN), transcript variant...
Homo sapiens regucalcin (senescence marker protein-30) (RGN), transcript variant 2, mRNAgi|23111020|ref|NM_152869.1|Nucleotide
-
Homo sapiens regucalcin (senescence marker protein-30), mRNA (cDNA clone MGC:877...
Homo sapiens regucalcin (senescence marker protein-30), mRNA (cDNA clone MGC:87766 IMAGE:6186669), complete cdsgi|49118182|gb|BC073173.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 2, 2024