NM_024649.5(BBS1):c.1439C>T (p.Thr480Met) AND Retinal dystrophy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 1, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003889300.1
Allele description [Variation Report for NM_024649.5(BBS1):c.1439C>T (p.Thr480Met)]
NM_024649.5(BBS1):c.1439C>T (p.Thr480Met)
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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carboxyl-terminal-processing peptidase 2, chloroplastic isoform X1 [Cucumis sati...
carboxyl-terminal-processing peptidase 2, chloroplastic isoform X1 [Cucumis sativus]gi|1784856873|ref|XP_031736351.1|Protein
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PREDICTED: protein SCAI isoform X1 [Cucumis melo]
PREDICTED: protein SCAI isoform X1 [Cucumis melo]gi|659114670|ref|XP_008457173.1|Protein
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PREDICTED: protein SCAI isoform X2 [Cucumis melo]
PREDICTED: protein SCAI isoform X2 [Cucumis melo]gi|659114672|ref|XP_008457174.1|Protein
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hypothetical protein SDJN02_26954, partial [Cucurbita argyrosperma subsp. argyro...
hypothetical protein SDJN02_26954, partial [Cucurbita argyrosperma subsp. argyrosperma]gi|2053592731|gb|KAG7012046.1||gnl| DJN|SDJN02_26954Protein
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hypothetical protein Csa_006040 [Cucumis sativus]
hypothetical protein Csa_006040 [Cucumis sativus]gi|1775892570|gb|KAE8651818.1||gnl| CHR|CsaV3_2P012890.1.cds1Protein
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Last Updated: Oct 13, 2024