PNMAL2 G570GRG - 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:

PNMAL2 G570GRG

(PNMAL2 570delGinsGRG)


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
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het CGGCCT @ chr19:46997017

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het CGGCCT @ chr19:46997017

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom CGGCCT @ chr19:46997017

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het CGGCCT @ chr19:46997017

 

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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