NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) AND Neuroblastoma
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- May 31, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000422541.2
Allele description [Variation Report for NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)]
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)
Condition(s)
- Name:
- Neuroblastoma (NB)
- Identifiers:
- MONDO: MONDO:0005072; MeSH: D009447; MedGen: C0027819; Orphanet: 635; Human Phenotype Ontology: HP:0003006
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Homo sapiens isolate CHM13 chromosome 11, alternate assembly T2T-CHM13v2.0
Homo sapiens isolate CHM13 chromosome 11, alternate assembly T2T-CHM13v2.0gi|2194973393|gnl|ASM:GCF_009914825 ef|NC_060935.1||gpp|GPC_000012750.1||gnl|NCBI_GENOMES|119571Nucleotide
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Perkinsus marinus ATCC 50983 genomic scaffold scf_1104296977912, whole genome sh...
Perkinsus marinus ATCC 50983 genomic scaffold scf_1104296977912, whole genome shotgun sequencegi|239863684|gb|GG687564.1||gnl|WGS 01|scf_1104296977912Nucleotide
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Taxonomy Links for Nucleotide (Select 2217334559) (1)
Taxonomy
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Ceratina calcarata isolate Rehan_Ccalc_2016 unplaced genomic scaffold, ASM165200...
Ceratina calcarata isolate Rehan_Ccalc_2016 unplaced genomic scaffold, ASM165200v1 scaffold10010, whole genome shotgun sequencegi|1059422810|gnl|ASM:GCF_001652015 affold10010|ref|NW_017130875.1||gpp|GPS_013953343.1|Nucleotide
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ym53e09.s1 Soares infant brain 1NIB Homo sapiens cDNA clone IMAGE:51807 3', mRNA...
ym53e09.s1 Soares infant brain 1NIB Homo sapiens cDNA clone IMAGE:51807 3', mRNA sequencegi|891254|gnl|dbEST|283070|gb|H2255Nucleotide
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Last Updated: May 12, 2024