NM_001018005.1(TPM1):c.23T>G (p.Met8Arg)

NM_001018005.1(TPM1):c.23T>G (p.Met8Arg)

Variant type:
single nucleotide variant
Cytogenetic location:
15q22.2
Genomic location:
  • Chr15:63042852 (on Assembly GRCh38)
  • Chr15:63335051 (on Assembly GRCh37)
Protein change:
M8R
HGVS:
  • NG_007557.1:g.5214T>G
  • NM_000366.5:c.23T>G
  • NM_001018005.1:c.23T>G
  • NC_000015.10:g.63042852T>G (GRCh38)
  • NP_000357.3:p.Met8Arg
  • NP_001018005.1:p.Met8Arg
  • NC_000015.9:g.63335051T>G (GRCh37)
Links:
dbSNP: 397516364
NCBI 1000 Genomes Browser:
rs397516364
Molecular consequence:
NM_001018005.1:c.23T>G: missense variant [Sequence Ontology SO:0001583]

Clinical significance

NM_001018005.1(TPM1):c.23T>G (p.Met8Arg)

Clinical significance:
Likely pathogenic
Review status:
1 star out of maximum of 4 stars
classified by single submitter
Number of submission(s):
1
Condition(s)
See supporting ClinVar records

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Recent activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Likely pathogenic
(Mar 1, 2008)
classified by single submitter
(clinical testing)
clinical testinggermlinePubMed (1)
[See all records that cite this PMID]
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

(Jan 29, 2015)

SCV000059970

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
11not providedgermlinenot providednot provided

Laboratory for Molecular Medicine

Observations

FamiliesIndividualsSegregationAllele originObserved phenotypesEthnicityGeographic originCollection method
11not providedgermlinenot providednot providednot providedclinical testing

Last Updated: Apr 24, 2015