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NM_001018005.1(TPM1):c.341A>G (p.Glu114Gly)

Variation ID: Help
43415
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Likely pathogenic
Last evaluated:
Nov 14, 2011
Number of submission(s):
1
Condition(s):
Primary dilated cardiomyopathy[MedGen - Orphanet]
See supporting ClinVar records

Allele(s) Help

NM_001018005.1(TPM1):c.341A>G (p.Glu114Gly)

Allele ID:
52585
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.2
Genomic location:
  • Chr15: 63057085 (on Assembly GRCh38)
  • Chr15: 63349284 (on Assembly GRCh37)
Protein change:
E114G
HGVS:
  • NG_007557.1:g.19447A>G
  • NM_000366.5:c.341A>G
  • NM_001018005.1:c.341A>G
  • NP_000357.3:p.Glu114Gly
  • NP_001018005.1:p.Glu114Gly
  • NC_000015.10:g.63057085A>G (GRCh38)
  • NC_000015.9:g.63349284A>G (GRCh37)
Links:
dbSNP: 397516370
NCBI 1000 Genomes Browser:
rs397516370
Molecular consequence:
NM_001018005.1:c.341A>G: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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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
Likely pathogenic
(Nov 14, 2011)
criteria provided, single submitter
clinical testinggermlineLaboratory for Molecular Medicine,Partners HealthCare Personalized MedicineSCV000059980.4
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine12germlinenot providednot providedThe Glu114Gly variant (TPM1) h…Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 28, 2017