ZNF28 R350T - 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:

ZNF28 R350T

(ZNF28 Arg350Thr)


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 @ chr19:53303890: 6.6% (709/10758) in EVS
  • G @ chr19:57995701: 16.4% (21/128) in GET-Evidence
  • Frequency shown in summary reports: 6.6% (709/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr19:53303890

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr19:53303890

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr19:53303890

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom G @ chr19:53303890

 

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr19:53303890

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr19:53303890

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr19:53303890

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr19:57995702

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr19:57995702

 

GS18555 - var-GS18555-1100-36-ASM
hom G @ chr19:57995702

 

GS18558 - var-GS18558-1100-36-ASM
hom G @ chr19:57995702

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr19:57995702

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr19:57995702

 

GS18947 - var-GS18947-1100-36-ASM
hom G @ chr19:57995702

 

GS18956 - var-GS18956-1100-36-ASM
hom G @ chr19:57995702

 

GS19669 - var-GS19669-1100-36-ASM
hom G @ chr19:57995702

 

Other external references
 

    dbSNP
  • rs57548937
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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