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
-
Hylobates leucogenys rhadinovirus 2 DNA polymerase (dpol) gene, partial cds
Hylobates leucogenys rhadinovirus 2 DNA polymerase (dpol) gene, partial cdsgi|42495017|gb|AY465375.1|Nucleotide
-
txid262584[Organism:noexp] (1)
Identical Protein Groups
-
262584[uid] (1)
Taxonomy
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024