NM_001844.5(COL2A1):c.3346G>T (p.Gly1116Cys) AND Spondyloepiphyseal dysplasia congenita
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 14, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001787264.1
Allele description [Variation Report for NM_001844.5(COL2A1):c.3346G>T (p.Gly1116Cys)]
NM_001844.5(COL2A1):c.3346G>T (p.Gly1116Cys)
Condition(s)
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NXPE family member 4 isoform X1 [Homo sapiens]
NXPE family member 4 isoform X1 [Homo sapiens]gi|2462526036|ref|XP_054225160.1|Protein
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Taxonomy Links for Nucleotide (Select 831210632) (1)
Taxonomy
-
BioProject Links for BioSample (Select 12541363) (1)
BioProject
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YAP transcriptional regulator depletion effect on endothelial cells
YAP transcriptional regulator depletion effect on endothelial cellsAccession: GDS5914GEO DataSets
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023