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NM_001455.3(FOXO3):c.583A>T (p.Lys195Ter)

Variation ID: Help
438763
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
other
Last evaluated:
May 1, 2016
Number of submission(s):
1
Condition(s):
Choroid plexus carcinoma[MedGen - Orphanet - Human Phenotype Ontology]
See supporting ClinVar records

Allele(s) Help

NM_001455.3(FOXO3):c.583A>T (p.Lys195Ter)

Allele ID:
432401
Variant type:
single nucleotide variant
Cytogenetic location:
6q21
Genomic location:
  • Chr6: 108561791 (on Assembly GRCh38)
  • Chr6: 108882994 (on Assembly GRCh37)
Protein change:
K195*
HGVS:
  • NM_001455.3:c.583A>T
  • NM_201559.2:c.583A>T
  • NP_001446.1:p.Lys195Ter
  • NP_963853.1:p.Lys195Ter
  • NC_000006.12:g.108561791A>T (GRCh38)
  • NC_000006.11:g.108882994A>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs1554209779
Molecular consequence:
NM_201559.2:c.583A>T: nonsense [Sequence Ontology SO:0001587]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Somatic

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
other
(May 1, 2016)
no assertion criteria providedclinical testingsomaticDonald Williams Parsons Laboratory,Baylor College of Medicine - CSER-BASIC3

See additional submitters


Study description
SCV000599921.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Donald Williams Parsons Laboratory,Baylor College of Medicinenot providednot providedsomaticnot providednot providednot provided3: Mutations in other consensu…Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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