NM_000969.5(RPL5):c.179T>C (p.Ile60Thr) AND Diamond-Blackfan anemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003077831.9
Allele description
NM_000969.5(RPL5):c.179T>C (p.Ile60Thr)
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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Kyphous sp. SWK-2012 isolate W_010 Tmo-4C4 (Tmo-4C4) gene, partial cds
Kyphous sp. SWK-2012 isolate W_010 Tmo-4C4 (Tmo-4C4) gene, partial cdsgi|429536290|gb|KC130617.1|Nucleotide
-
Mus musculus allantoicase, mRNA (cDNA clone MGC:124129 IMAGE:40046116), complete...
Mus musculus allantoicase, mRNA (cDNA clone MGC:124129 IMAGE:40046116), complete cdsgi|80477949|gb|BC108957.1|Nucleotide
-
Homo sapiens TDRKH antisense RNA 1 (TDRKH-AS1), transcript variant 2, long non-c...
Homo sapiens TDRKH antisense RNA 1 (TDRKH-AS1), transcript variant 2, long non-coding RNAgi|1169100969|ref|NR_146293.1|Nucleotide
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Listeria monocytogenes strain 2945 contig_51, whole genome shotgun sequence
Listeria monocytogenes strain 2945 contig_51, whole genome shotgun sequencegi|1035820832|ref|NZ_LXQT01000050.1 |WGS:NZ_LXQT01|contig_51Nucleotide
-
Listeria monocytogenes strain 2973 contig_5, whole genome shotgun sequence
Listeria monocytogenes strain 2973 contig_5, whole genome shotgun sequencegi|1035821077|ref|NZ_LXQV01000005.1 |WGS:NZ_LXQV01|contig_5Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 16, 2024