LAMA3 P1208T - 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:

LAMA3 P1208T

(LAMA3 Pro1208Thr)


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 @ chr18:21424991: 4.8% (467/9770) in EVS
  • A @ chr18:19678988: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 4.8% (467/9770)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr18:21424991

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het A @ chr18:21424991

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr18:21424991

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr18:21424991

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr18:21424991

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr18:21424991

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr18:21424991

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr18:19678989

 

Other external references
 

    dbSNP
  • rs17202961
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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