LAMA4 R154W - GET-Evidence

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

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(LAMA4 Arg154Trp)

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)



hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr6:112522852


hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr6:112522852


hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr6:112522852


huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr6:112522852


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


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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