NM_000095.3(COMP):c.218-14C>T AND Multiple epiphyseal dysplasia type 1
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000395471.13
Allele description [Variation Report for NM_000095.3(COMP):c.218-14C>T]
NM_000095.3(COMP):c.218-14C>T
Condition(s)
-
Homo sapiens isolate:CHM13
Homo sapiens isolate:CHM13Homo sapiens isolate:CHM13 RefSeq Genome sequencing and assemblyBioProject
-
BioProject Links for Nucleotide (Select 2462569683) (1)
BioProject
-
NCOA2 nuclear receptor coactivator 2 [Homo sapiens]
NCOA2 nuclear receptor coactivator 2 [Homo sapiens]Gene ID:10499Gene
-
Microbe sample from Gammaproteobacteria bacterium 2W06
Microbe sample from Gammaproteobacteria bacterium 2W06biosample
-
BioSample links for Nucleotide (Select 1401794168) (1)
BioSample
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See more...Assertion and evidence details
Last Updated: May 19, 2024