NM_001034853.2(RPGR):c.3095_3106del (p.1030GE[1]) AND Primary ciliary dyskinesia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003878672.2
Allele description [Variation Report for NM_001034853.2(RPGR):c.3095_3106del (p.1030GE[1])]
NM_001034853.2(RPGR):c.3095_3106del (p.1030GE[1])
Condition(s)
- Name:
- Primary ciliary dyskinesia
- Synonyms:
- Ciliary dyskinesia
- Identifiers:
- MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265
-
Drosophila melanogaster uncharacterized protein (CG9222), mRNA
Drosophila melanogaster uncharacterized protein (CG9222), mRNAgi|24582157|ref|NM_135155.2|Nucleotide
-
Coleoptera sp. NZAC 03013438 voucher NZAC:03013438 cytochrome oxidase subunit I ...
Coleoptera sp. NZAC 03013438 voucher NZAC:03013438 cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrialgi|808156000|gb|KP421571.1|Nucleotide
-
JGI_XZG16942.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7533061 5'...
JGI_XZG16942.fwd NIH_XGC_tropGas7 Xenopus tropicalis cDNA clone IMAGE:7533061 5', mRNA sequencegi|57249758|gnl|dbEST|27055801|gb|C 38.1|Nucleotide
-
AL635230 XGC-neurula Xenopus tropicalis cDNA clone TNeu006n24 5', mRNA sequence
AL635230 XGC-neurula Xenopus tropicalis cDNA clone TNeu006n24 5', mRNA sequencegi|38212751|gnl|dbEST|20318636|emb| 230.2|Nucleotide
-
AGENCOURT_78604565 NICHD_XGC_skin_m Xenopus laevis cDNA clone IMAGE:8640596 3', ...
AGENCOURT_78604565 NICHD_XGC_skin_m Xenopus laevis cDNA clone IMAGE:8640596 3', mRNA sequencegi|95016612|gnl|dbEST|39158758|gb|E 96.1|Nucleotide
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Last Updated: Sep 29, 2024