LAMA5 T956A - 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.

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Curation:
Currentness:

(See the latest version)

LAMA5 T956A

(LAMA5 Thr956Ala)


You are viewing an old version of this page that was saved on June 22, 2011 at 11:37pm by Genome Importing Robot.

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
 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
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

 

NA07022

 

NA12878

 

NA18956

 

snp-2

 

Deleted in this revision:

snp-2

 

snp-5

 

snp-6

 

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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