AKAP9 K1335KQ - 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:

AKAP9 K1335KQ

(AKAP9 1335delKinsKQ)


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
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom AAC @ chr7:91652179

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het AAC @ chr7:91652179

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom AAC @ chr7:91652179

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het AAC @ chr7:91652179

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het AAC @ chr7:91652179

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het AAC @ chr7:91652179

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het AAC @ chr7:91652179

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom AAC @ chr7:91652179

 

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het AAC @ chr7:91652179

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het AAC @ chr7:91652179

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het AAC @ chr7:91652179

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
hom AAC @ chr7:91652179

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het AAC @ chr7:91652179

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het AAC @ chr7:91652179

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het AAC @ chr7:91652179

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het AAC @ chr7:91652179

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom AAC @ chr7:91652179

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het AAC @ chr7:91652179

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het AAC @ chr7:91652179

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het AAC @ chr7:91652179

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het AAC @ chr7:91652179

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het AAC @ chr7:91652179

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het AAC @ chr7:91652179

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het AAC @ chr7:91652179

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het AAC @ chr7:91652179

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het AAC @ chr7:91652179

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het AAC @ chr7:91652179

 

GS19669 - var-GS19669-1100-36-ASM
hom AAC @ chr7:91490118

 

Other external references
 

    dbSNP
  • rs34733695
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs34756483
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs10644111
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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