NM_001034853.2(RPGR):c.2691G>A (p.Glu897=) AND Primary ciliary dyskinesia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003085687.4
Allele description [Variation Report for NM_001034853.2(RPGR):c.2691G>A (p.Glu897=)]
NM_001034853.2(RPGR):c.2691G>A (p.Glu897=)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
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Arabidopsis thaliana microtubule-associated proteins 70-2 (MAP70-2), partial mRN...
Arabidopsis thaliana microtubule-associated proteins 70-2 (MAP70-2), partial mRNAgi|1063686218|ref|NM_001332663.1|Nucleotide
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Saccharomyces cerevisiae S288C Rrf1p (RRF1), partial mRNA
Saccharomyces cerevisiae S288C Rrf1p (RRF1), partial mRNAgi|296145413|ref|NM_001179168.1|Nucleotide
-
Macaca mulatta ATP synthase membrane subunit k (ATP5MK), mRNA; nuclear gene for ...
Macaca mulatta ATP synthase membrane subunit k (ATP5MK), mRNA; nuclear gene for mitochondrial productgi|388453446|ref|NM_001265824.1|Nucleotide
-
Arabidopsis thaliana Auxin efflux carrier family protein (PIN7), mRNA
Arabidopsis thaliana Auxin efflux carrier family protein (PIN7), mRNAgi|1063685781|ref|NM_001084115.2|Nucleotide
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PREDICTED: Sus scrofa argonaute 1, RISC catalytic component (AGO1), transcript v...
PREDICTED: Sus scrofa argonaute 1, RISC catalytic component (AGO1), transcript variant X1, mRNAgi|1191883329|ref|XM_005665209.3|Nucleotide
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Last Updated: Sep 29, 2024