NM_016122.3(CEP83):c.662G>A (p.Cys221Tyr) AND Nephronophthisis 18
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001900392.3
Allele description [Variation Report for NM_016122.3(CEP83):c.662G>A (p.Cys221Tyr)]
NM_016122.3(CEP83):c.662G>A (p.Cys221Tyr)
Condition(s)
-
Homo sapiens isolate:CHM13
Homo sapiens isolate:CHM13Homo sapiens isolate:CHM13 RefSeq Genome sequencing and assemblyBioProject
-
BioProject Links for Nucleotide (Select 2462551443) (1)
BioProject
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024