LAMA2 T2634A - 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 T2634A

(LAMA2 Thr2634Ala)


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

  • G @ chr6:129813053: 8.0% (862/10758) in EVS
  • G @ chr6:129854745: 11.7% (15/128) in GET-Evidence
  • Frequency shown in summary reports: 8.0% (862/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr6:129813053

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr6:129813053

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr6:129813053

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr6:129813053

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr6:129813053

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr6:129813053

 

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr6:129813053

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr6:129813053

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr6:129813053

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr6:129813053

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr6:129854746

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr6:129854746

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr6:129854746

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr6:129854746

 

GS18956 - var-GS18956-1100-36-ASM
het G @ chr6:129854746

 

GS19025 - var-GS19025-1100-36-ASM
het G @ chr6:129854746

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr6:129854746

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr6:129854746

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr6:129854746

 

Other external references
 

    dbSNP
  • rs2244008
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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