NM_001018005.1(TPM1):c.725C>T (p.Ala242Val)

Variation ID: Help
43437
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_001018005.1(TPM1):c.725C>T (p.Ala242Val)

Allele ID:
52607
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.2
Genomic location:
  • Chr15: 63062598 (on Assembly GRCh38)
  • Chr15: 63354797 (on Assembly GRCh37)
Protein change:
A242V
HGVS:
  • NG_007557.1:g.24960C>T
  • NM_000366.5:c.725C>T
  • NM_001018005.1:c.725C>T
  • NP_000357.3:p.Ala242Val
  • NP_001018005.1:p.Ala242Val
  • NC_000015.10:g.63062598C>T (GRCh38)
  • NC_000015.9:g.63354797C>T (GRCh37)
Links:
dbSNP: 397516387
NCBI 1000 Genomes Browser:
rs397516387
Molecular consequence:
NM_001018005.1:c.725C>T: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

NM_001018005.1(TPM1):c.725C>T (p.Ala242Val)

GRCh37 Chr15:63354797
Called variantsPotential variants
Sample countno data0 of 44537

Called variants are samples submitted to dbGaP that have the variant allele. Potential variants are SRA runs that display the allele in at least 30% of the reads covering the position, and have 10 or more passing reads covering the position.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Uncertain significance
(Jul 21, 2014)
criteria provided, single submitter
clinical testinggermlineLaboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000060009.4
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine13germlinenot providednot provided(contact laboratory)…Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 7, 2017