NM_000321.3(RB1):c.1617A>C (p.Glu539Asp) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000571118.3
Allele description [Variation Report for NM_000321.3(RB1):c.1617A>C (p.Glu539Asp)]
NM_000321.3(RB1):c.1617A>C (p.Glu539Asp)
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
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PREDICTED: Homo sapiens ITPR interacting domain containing 2 (ITPRID2), transcri...
PREDICTED: Homo sapiens ITPR interacting domain containing 2 (ITPRID2), transcript variant X7, mRNAgi|2462576409|ref|XM_054343557.1|Nucleotide
-
homeobox protein Nkx-2.2 isoform 2 [Homo sapiens]
homeobox protein Nkx-2.2 isoform 2 [Homo sapiens]gi|2580854165|ref|NP_001411340.1|Protein
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Acinetobacter bereziniae strain XH901, complete genome
Acinetobacter bereziniae strain XH901, complete genomegi|1294491359|gb|CP018259.1|Nucleotide
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Laccaria bicolor S238N-H82 LACBIscaffold_2 genomic scaffold, whole genome shotgu...
Laccaria bicolor S238N-H82 LACBIscaffold_2 genomic scaffold, whole genome shotgun sequencegi|164649610|gb|DS547092.1||gnl|WGS |LACBIscaffold_2Nucleotide
-
Burkholderia cepacia
Burkholderia cepaciaBurkholderia cepacia Genome sequencing and assemblyBioProject
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Last Updated: Sep 29, 2024