LAMA5 T956A - 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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LAMA5 T956A

(LAMA5 Thr956Ala)


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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 @ chr20:60908969: 74.5% (7950/10672) in EVS
  • C @ chr20:60342363: 54.3% (38/70) in GET-Evidence
  • Frequency shown in summary reports: 74.5% (7950/10672)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom C @ chr20:60908969

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom C @ chr20:60908969

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom C @ chr20:60908969

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom C @ chr20:60908969

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr20:60908969

 

Added in this revision:

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom C @ chr20:60908969

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom C @ chr20:60908969

 

GS10851 - var-GS10851-1100-36-ASM
hom C @ chr20:60342364

 

GS12004 - var-GS12004-1100-36-ASM
hom C @ chr20:60342364

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr20:60342364

 

GS18537 - var-GS18537-1100-36-ASM
hom C @ chr20:60342364

 

GS18555 - var-GS18555-1100-36-ASM
hom C @ chr20:60342364

 

GS18947 - var-GS18947-1100-36-ASM
hom C @ chr20:60342364

 

GS19648 - var-GS19648-1100-36-ASM
hom C @ chr20:60342364

 

GS19649 - var-GS19649-1100-36-ASM
hom C @ chr20:60342364

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr20:60342364

 

GS19834 - var-GS19834-1100-36-ASM
hom C @ chr20:60342364

 

GS20509 - var-GS20509-1100-36-ASM
hom C @ chr20:60342364

 

Other external references
 

    dbSNP
  • rs13042941
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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