NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly) AND Neurofibromatosis, type 1
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- Dec 12, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000233760.14
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:
- Neurofibromatosis, type 1 (NF1)
- Synonyms:
- NEUROFIBROMATOSIS, TYPE I; Recklinghausen's disease; Von Recklinghausen disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018975; MedGen: C0027831; Orphanet: 636; OMIM: 162200
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E3 ubiquitin-protein ligase UBR5 isoform X6 [Homo sapiens]
E3 ubiquitin-protein ligase UBR5 isoform X6 [Homo sapiens]gi|530389115|ref|XP_005251019.1|Protein
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Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), transcri...
Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), transcript variant 2, mRNAgi|1889544469|ref|NM_001282873.2|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 X1, mRNAgi|2462619735|ref|XM_054360623.1|Nucleotide
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zo86d03.s1 Stratagene ovarian cancer (#937219) Homo sapiens cDNA clone IMAGE:593...
zo86d03.s1 Stratagene ovarian cancer (#937219) Homo sapiens cDNA clone IMAGE:593765 3', mRNA sequencegi|1745341|gnl|dbEST|805995|gb|AA16 1|Nucleotide
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E3 ubiquitin-protein ligase UBR5 isoform X3 [Homo sapiens]
E3 ubiquitin-protein ligase UBR5 isoform X3 [Homo sapiens]gi|2462619740|ref|XP_054216600.1|Protein
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Last Updated: Sep 1, 2024