Click here to see the new Variation Report design!

NM_000256.3(MYBPC3):c.2897A>T (p.Glu966Val)

Variation ID: Help
180987
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000256.3(MYBPC3):c.2897A>T (p.Glu966Val)

Allele ID:
179226
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
  • Chr11: 47335050 (on Assembly GRCh38)
  • Chr11: 47356601 (on Assembly GRCh37)
Other names:
  • p.E966V:GAG>GTG
Protein change:
E966V
HGVS:
  • NG_007667.1:g.22653A>T
  • NM_000256.3:c.2897A>T
  • NP_000247.2:p.Glu966Val
  • NC_000011.10:g.47335050T>A (GRCh38)
  • LRG_386t1:c.2897A>T
  • NC_000011.9:g.47356601T>A (GRCh37)
  • LRG_386p1:p.Glu966Val
  • LRG_386:g.22653A>T
Links:
NCBI 1000 Genomes Browser:
rs730880579
Molecular consequence:
NM_000256.3:c.2897A>T: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

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
(May 21, 2017)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000208129.10
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    GeneDxnot providednot providedgermlinenot providednot providednot providedA variant of uncertain signifi…Full description
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Jul 21, 2018