NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 11, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002504820.8
Allele description [Variation Report for NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)]
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del)
Condition(s)
- Name:
- Schwannomatosis 1 (SWN1)
- Synonyms:
- Neurilemmomatosis congenital cutaneous
- Identifiers:
- MONDO: MONDO:0024517; MedGen: C4048809; Orphanet: 93921; OMIM: 162091
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Mus musculus targeted KO-first, conditional ready, lacZ-tagged mutant allele Shc...
Mus musculus targeted KO-first, conditional ready, lacZ-tagged mutant allele Shc2:tm1a(KOMP)Wtsi; transgenicgi|354780546|gb|JN945047.1|Nucleotide
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UI-R-CW0-bxn-d-10-0-UI.s1 UI-R-CW0 Rattus norvegicus cDNA clone UI-R-CW0-bxn-d-1...
UI-R-CW0-bxn-d-10-0-UI.s1 UI-R-CW0 Rattus norvegicus cDNA clone UI-R-CW0-bxn-d-10-0-UI 3', mRNA sequencegi|14925571|gnl|dbEST|9081538|gb|BI 2.1|Nucleotide
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DRACOD02 Rat DRG Library Rattus norvegicus cDNA clone DRACOD02 5', mRNA sequence
DRACOD02 Rat DRG Library Rattus norvegicus cDNA clone DRACOD02 5', mRNA sequencegi|13890415|gnl|dbEST|8431193|gb|BG 3.1|Nucleotide
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Non-metastatic cells 3, protein expressed in [Mus musculus]
Non-metastatic cells 3, protein expressed in [Mus musculus]gi|20306984|gb|AAH28503.1|Protein
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Last Updated: Sep 16, 2024