ATP13A2 VV467DL - 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:

ATP13A2 VV467DL

(ATP13A2 467_468delVVinsDL)


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
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het GGT @ chr1:17322611

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het GGT @ chr1:17322611

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het GGT @ chr1:17322611

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het GGT @ chr1:17322611

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het GGT @ chr1:17322611

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het GGT @ chr1:17322611

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het GGT @ chr1:17322611

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het GGT @ chr1:17322611

 

Other external references
 

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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