ZNF532 E761D - 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.

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Curation:
Currentness:

ZNF532 E761D

(ZNF532 Glu761Asp)


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 @ chr18:56587802: 2.3% (251/10758) in EVS
  • C @ chr18:54738781: 9.5% (12/126) in GET-Evidence
  • Frequency shown in summary reports: 2.3% (251/10758)

Publications
 

Genomes
 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr18:56587802

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr18:56587802

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr18:56587802

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr18:54738782

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr18:54738782

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr18:54738782

 

GS18942 - var-GS18942-1100-36-ASM
hom C @ chr18:54738782

 

GS19670 - var-GS19670-1100-36-ASM
hom C @ chr18:54738782

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr18:54738782

 

Other external references
 

    dbSNP
  • rs3737506
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.98 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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