LAMA5 S352Shift - 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:

LAMA5 S352Shift

(LAMA5 352delSinsShift)


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

  • None available.

Publications
 

Genomes
 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr20:60921988

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het TC @ chr20:60921988

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr20:60921988

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het CTC @ chr20:60921987

 

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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