LAMA4 R154W - GET-Evidence

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

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(LAMA4 Arg154Trp)

You are viewing an old version of this page that was saved on June 22, 2011 at 11:50pm by Genome Importing Robot.

Short summary


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


Insufficiently evaluated not reviewed

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

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • A @ chr6:112522852: 4.7% (502/10758) in EVS
  • A @ chr6:112629544: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 4.7% (502/10758)



GS06994 - var-GS06994-1100-36-ASM
het A @ chr6:112629545




Deleted in this revision:



Other external references

  • rs11757455
  • Score: 0.999 (probably damaging)
    Web search results (4 hits -- see all)
  • LAMA4 Gene - GeneCards | LAMA4 Protein | LAMA4 Antibody
    LAMA4 Gene in genomic location: bands according to Ensembl, locations ... Sigma-Aldrich Antibodies for LAMA4. R&D Systems Antibodies for LAMA4 (Laminin alpha 4) ...
  • Laminin subunit alpha-4 precursor - Homo sapiens (Human)
    "The structural organisation of LAMA4, the gene encoding laminin alpha4. ... "Localization of the gene (LAMA4) to chromosome 6q21 and isolation of a partial ...
  • Mooney Lab - MutDB
    LAMA4. Number of Transcript Variants. 0. Visualize Pathways. Using web services (slow) ... DBSNP:rs11757455. 153. R W. NCBI. In dbsnp. None. 0.00. DBSNP:rs9400522. 275. A E. NCBI. In dbsnp. ...
  • UniProt: Q16363
    ... RT "The structural organisation of LAMA4, the gene encoding laminin RT alpha4. ... RT "Localization of the gene (LAMA4) to chromosome 6q21 and isolation ...

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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