ARHGAP9 R50G - 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:

ARHGAP9 R50G

(ARHGAP9 Arg50Gly)


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

  • C @ chr12:57873042: 4.9% (522/10758) in EVS
  • C @ chr12:56159308: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 4.9% (522/10758)

Publications
 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr12:57873042

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr12:57873042

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr12:57873042

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr12:57873042

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr12:57873042

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr12:56159309

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr12:56159309

 

Other external references
 

    dbSNP
  • rs33927108
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.979 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in