TOR1AIP2 L182R - 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:

TOR1AIP2 L182R

(TOR1AIP2 Leu182Arg)


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
 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het CT @ chr1:179819988

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het CT @ chr1:179819988

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het CT @ chr1:179819988

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het CT @ chr1:179819988

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het CT @ chr1:179819988

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het CT @ chr1:179819988

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het CT @ chr1:179819988

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het CT @ chr1:179819988

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het CT @ chr1:179819988

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het CT @ chr1:179819988

 

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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