WDR55 Y235C - 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:

WDR55 Y235C

(WDR55 Tyr235Cys)


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

  • G @ chr5:140048707: 6.5% (697/10758) in EVS
  • G @ chr5:140028890: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 6.5% (697/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr5:140048707

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr5:140048707

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom G @ chr5:140048707

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het G @ chr5:140048707

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr5:140048707

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr5:140048707

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr5:140048707

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr5:140028891

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr5:140028891

 

Other external references
 

    dbSNP
  • rs35983033
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.986 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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