LAMA2 R619H - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

LAMA2 R619H

(LAMA2 Arg619His)


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

  • A @ chr6:129571330: 27.2% (2924/10758) in EVS
  • A @ chr6:129613022: 30.5% (39/128) in GET-Evidence
  • Frequency shown in summary reports: 27.2% (2924/10758)

Publications
 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr6:129571330

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr6:129571330

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr6:129571330

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr6:129571330

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr6:129571330

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr6:129613023

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr6:129613023

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr6:129613023

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr6:129613023

 

GS18505 - var-GS18505-1100-36-ASM
hom A @ chr6:129613023

 

GS18508 - var-GS18508-1100-36-ASM
hom A @ chr6:129613023

 

GS18517 - var-GS18517-1100-36-ASM
hom A @ chr6:129613023

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr6:129613023

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr6:129613023

 

GS19020 - var-GS19020-1100-36-ASM
hom A @ chr6:129613023

 

GS19025 - var-GS19025-1100-36-ASM
het A @ chr6:129613023

 

GS19026 - var-GS19026-1100-36-ASM
hom A @ chr6:129613023

 

GS19129 - var-GS19129-1100-36-ASM
hom A @ chr6:129613023

 

GS19238 - var-GS19238-1100-36-ASM
hom A @ chr6:129613023

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr6:129613023

 

GS19240 - var-GS19240-1100-36-ASM
hom A @ chr6:129613023

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr6:129613023

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr6:129613023

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr6:129613023

 

GS19703 - var-GS19703-1100-36-ASM
hom A @ chr6:129613023

 

GS19704 - var-GS19704-1100-36-ASM
hom A @ chr6:129613023

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr6:129613023

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr6:129613023

 

GS21767 - var-GS21767-1100-36-ASM
hom A @ chr6:129613023

 

Other external references
 

    dbSNP
  • rs3816665
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (3 hits -- see all)
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Mutation and Polymorphism Report
    2 chain gene ( LAMA2): application to prenatal diagnosis and search for ... 2- chain (LAMA2) gene polymorphisms [ { c1905G. A ( R619H ) exon 12 } ...
    interscience.wiley.com/journal/38515/.../mutation/mpr38.pdf
  • Mutation and Polymorphism Report Corrigendum
    gene ( LAMA2): application to prenatal diagnosis and search for founder effects ... (LAMA2) cause merosin - deficient congenital muscular dystrophy. ...
    interscience.wiley.com/journal/38515/.../mutation/mpr43.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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