LMNA L15P - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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LMNA L15P

(LMNA Leu15Pro)


You are viewing an old version of this page that was saved on March 29, 2011 at 4:07am by Genome Importing Robot.

Added in this revision:

Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • C @ chr1:156105028: 20.3% (2188/10758) in EVS
  • C @ chr1:154371651: 22.7% (29/128) in GET-Evidence
  • Frequency shown in summary reports: 20.3% (2188/10758)

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the LMNA gene
    Dilated Cardiomyopathy
    Limb-Girdle Muscular Dystrophies, Autosomal Dominant
    Atypical Werner Syndrome
    Charcot-Marie-Tooth Neuropathy Type 2
    Charcot-Marie-Tooth Neuropathy Type 2B1
    Dilated Cardiomyopathy with Quadriceps Myopathy
    Emery-Dreifuss Muscular Dystrophy
    Emery-Dreifuss Muscular Dystrophy, Autosomal
    Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant
    Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive
    Familial Partial Lipodystrophy, Dunnigan Type
    Hutchinson-Gilford Progeria
    Lethal Tight Skin Contracture Syndrome
    LGMD1B
    Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardi
    LMNA-Related Dilated Cardiomyopathy
    Mandibuloacral Dysplasia
    Progeroid Laminopathies
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/LMNA

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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