NM_000969.5(RPL5):c.614C>G (p.Ala205Gly) AND Diamond-Blackfan anemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 15, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003616739.2
Allele description [Variation Report for NM_000969.5(RPL5):c.614C>G (p.Ala205Gly)]
NM_000969.5(RPL5):c.614C>G (p.Ala205Gly)
Condition(s)
- Name:
- Diamond-Blackfan anemia
- Synonyms:
- Blackfan Diamond syndrome; Anemia congenital erythroid hypoplastic; Aregenerative anemia chronic congenital; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015253; MeSH: D029503; MedGen: C1260899; Orphanet: 124; OMIM: PS105650; Human Phenotype Ontology: HP:0004810
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Triops cf. australiensis P.92068 cytochrome c oxidase subunit 1 (COI) gene, partial cds; mitochondrialgi|1043221032|gb|KX162508.1|Nucleotide
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Gm29492 predicted gene 29492 [Mus musculus]
Gm29492 predicted gene 29492 [Mus musculus]Gene ID:102632864Gene
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Uncultured beta proteobacterium clone read27437 16S ribosomal RNA gene, partial ...
Uncultured beta proteobacterium clone read27437 16S ribosomal RNA gene, partial sequencegi|1672209127|gb|MK980213.1|Nucleotide
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Uncultured beta proteobacterium clone read27599 16S ribosomal RNA gene, partial ...
Uncultured beta proteobacterium clone read27599 16S ribosomal RNA gene, partial sequencegi|1672209132|gb|MK980218.1|Nucleotide
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Pseudomonas ficuserectae strain ICMP 7850 PfiICMP7850_Contig_67, whole genome sh...
Pseudomonas ficuserectae strain ICMP 7850 PfiICMP7850_Contig_67, whole genome shotgun sequencegi|1499588420|gb|RBSN01000305.1||gn :RBSN01|PfiICMP7850_Contig_67Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 20, 2024