NM_024537.4(CARS2):c.819A>C (p.Ser273=) AND Combined oxidative phosphorylation defect type 27
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 19, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003755463.2
Allele description [Variation Report for NM_024537.4(CARS2):c.819A>C (p.Ser273=)]
NM_024537.4(CARS2):c.819A>C (p.Ser273=)
Condition(s)
-
antitermination protein [Escherichia phage HK022]
antitermination protein [Escherichia phage HK022]gi|9634152|ref|NP_037694.1|Protein
-
iron siderophore ABC transporter substrate-binding protein [Rothia sp. HMSC069C1...
iron siderophore ABC transporter substrate-binding protein [Rothia sp. HMSC069C10]gi|1080183937|gb|OFJ80758.1||gnl|WG P|HMPREF2842_03035Protein
-
Homo sapiens S100 calcium binding protein A10 (S100A10), mRNA
Homo sapiens S100 calcium binding protein A10 (S100A10), mRNAgi|1519313907|ref|NM_002966.3|Nucleotide
-
PREDICTED: Homo sapiens A-kinase anchoring protein 10 (AKAP10), transcript varia...
PREDICTED: Homo sapiens A-kinase anchoring protein 10 (AKAP10), transcript variant X3, mRNAgi|2462552686|ref|XM_054314857.1|Nucleotide
-
primary-amine oxidase, partial [Pseudarthrobacter humi]
primary-amine oxidase, partial [Pseudarthrobacter humi]gi|2273479686|ref|WP_254753346.1|Protein
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Last Updated: Sep 29, 2024