ZFP28 S141W - 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:

ZFP28 S141W

(ZFP28 Ser141Trp)


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 @ chr19:57058998: 15.2% (1632/10758) in EVS
  • G @ chr19:61750809: 14.1% (18/128) in GET-Evidence
  • Frequency shown in summary reports: 15.2% (1632/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr19:57058998

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr19:57058998

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het G @ chr19:57058998

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom G @ chr19:57058998

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr19:57058998

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr19:57058998

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr19:57058998

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het G @ chr19:57058998

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr19:57058998

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr19:57058998

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom G @ chr19:57058998

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr19:57058998

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr19:57058998

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr19:61750810

 

GS10851 - var-GS10851-1100-36-ASM
hom G @ chr19:61750810

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr19:61750810

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr19:61750810

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr19:61750810

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr19:61750810

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr19:61750810

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr19:61750810

 

Other external references
 

    dbSNP
  • rs34136271
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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