NM_001034853.2(RPGR):c.3172A>G (p.Asn1058Asp) AND Primary ciliary dyskinesia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002790838.4
Allele description [Variation Report for NM_001034853.2(RPGR):c.3172A>G (p.Asn1058Asp)]
NM_001034853.2(RPGR):c.3172A>G (p.Asn1058Asp)
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
Homo sapiens keratocan (KERA), mRNA
Homo sapiens keratocan (KERA), mRNAgi|62865891|ref|NM_007035.3|Nucleotide
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Last Updated: Sep 29, 2024