NR_001296 G11A - 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:

NR_001296 G11A

(NR_001296 Gly11Ala)


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
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het TGC @ chr7:142478869

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het TGC @ chr7:142478869

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het TGC @ chr7:142478869

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het TGC @ chr7:142478869

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het TGC @ chr7:142478869

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het TGC @ chr7:142478869

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het TGC @ chr7:142478869

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het TGC @ chr7:142478869

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het TGC @ chr7:142478869

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het TGC @ chr7:142478869

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het TGC @ chr7:142478869

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het TGC @ chr7:142478869

 

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het TGC @ chr7:142478869

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het TGC @ chr7:142478869

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het TGC @ chr7:142478869

 

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in