NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs) AND Retinal dystrophy
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 10, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001073989.3
Allele description [Variation Report for NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs)]
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs)
Condition(s)
- Name:
- Retinal dystrophy
- Synonyms:
- Inherited retinal dystrophy
- Identifiers:
- MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556
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Trypanosoma conorhini uncharacterized protein (Tco025E_00798), partial mRNA
Trypanosoma conorhini uncharacterized protein (Tco025E_00798), partial mRNAgi|1673129879|ref|XM_029367738.1|Nucleotide
-
Trypanosoma conorhini uncharacterized protein (Tco025E_00762), partial mRNA
Trypanosoma conorhini uncharacterized protein (Tco025E_00762), partial mRNAgi|1673129807|ref|XM_029367702.1|Nucleotide
-
Trypanosoma conorhini uncharacterized protein (Tco025E_00887), partial mRNA
Trypanosoma conorhini uncharacterized protein (Tco025E_00887), partial mRNAgi|1673129993|ref|XM_029367826.1|Nucleotide
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BJ639487 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cD...
BJ639487 NIBB Mochii normalized Xenopus early gastrula library Xenopus laevis cDNA clone XL202g08 3', mRNA sequencegi|37298793|gnl|dbEST|19944498|dbj| 487.1|Nucleotide
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Last Updated: Oct 13, 2024