NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter) AND not provided
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- Last evaluated:
- Feb 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000513450.28
Allele description [Variation Report for NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)]
NM_206933.4(USH2A):c.5118G>A (p.Trp1706Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
polyprotein [Ceratobasidium endornavirus D]
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Homo sapiens transmembrane protein 159 (TMEM159), transcript variant 2, mRNA
Homo sapiens transmembrane protein 159 (TMEM159), transcript variant 2, mRNAgi|685156918|ref|NM_020422.5|Nucleotide
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Chain A, pheromone binding protein
Chain A, pheromone binding proteingi|34810498|pdb|1OW4|AProtein
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The White Blood Cell and Differential Count - Clinical Methods
The White Blood Cell and Differential Count - Clinical Methods
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See more...Assertion and evidence details
Last Updated: Aug 4, 2024