NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly) AND Juvenile myelomonocytic leukemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003467127.1
Allele description [Variation Report for NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)]
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)
Condition(s)
- Name:
- Juvenile myelomonocytic leukemia (JMML)
- Synonyms:
- LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC
- Identifiers:
- MONDO: MONDO:0011908; MedGen: C0349639; Orphanet: 86834; OMIM: 607785; Human Phenotype Ontology: HP:0012209
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PREDICTED: Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5...
PREDICTED: Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), transcript variant X2, mRNAgi|2217372201|ref|XM_047421847.1|Nucleotide
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PREDICTED: Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5...
PREDICTED: Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), transcript variant X3, mRNAgi|2217372203|ref|XM_024447179.2|Nucleotide
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TSA: Amaranthus tricolor a11217;118 transcribed RNA sequence
TSA: Amaranthus tricolor a11217;118 transcribed RNA sequencegi|563626440|gb|GAPX01006778.1||gnl GAPX01|a11217;118Nucleotide
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Last Updated: Sep 1, 2024