DOCK9 R18W - 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:

DOCK9 R18W

(DOCK9 Arg18Trp)


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

  • A @ chr13:99738554: 6.9% (431/6206) in EVS
  • A @ chr13:98536554: 4.4% (3/68) in GET-Evidence
  • Frequency shown in summary reports: 6.9% (431/6206)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr13:99738554

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het A @ chr13:99738554

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr13:99738554

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr13:99738554

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr13:99738554

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr13:99738554

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr13:99738554

 

Other external references
 

    dbSNP
  • rs117633128
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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