NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys) AND Brachyrachia (short spine dysplasia)
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 30, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001331193.9
Allele description [Variation Report for NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)]
NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys)
Condition(s)
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MULTISPECIES: transcription antiterminator [Pantoea]
MULTISPECIES: transcription antiterminator [Pantoea]gi|2282514013|ref|WP_256853489.1|Protein
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Sphex satanas isolate THD-018-OOLM cytochrome c oxidase subunit I (COX1) gene, p...
Sphex satanas isolate THD-018-OOLM cytochrome c oxidase subunit I (COX1) gene, partial cds; mitochondrialgi|1967306180|gb|MW538568.1|Nucleotide
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Nudipleura 16S ribosomal RNA gene, partial sequence; mitochondrial.
Nudipleura 16S ribosomal RNA gene, partial sequence; mitochondrial.PopSet: 300393582PopSet
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Homologene neighbors for GEO Profiles (Select 59191976) (0)
GEO Profiles
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BioSample Links for BioProject (Select 932444) (108)
BioSample
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See more...Assertion and evidence details
Last Updated: Nov 3, 2024