ZNF276 W263R - 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:

ZNF276 W263R

(ZNF276 Trp263Arg)


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 @ chr16:89789898: 37.0% (3972/10746) in EVS
  • C @ chr16:88317398: 52.3% (67/128) in GET-Evidence
  • Frequency shown in summary reports: 37.0% (3972/10746)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr16:89789898

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het C @ chr16:89789898

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom C @ chr16:89789898

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr16:89789898

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr16:89789898

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom C @ chr16:89789898

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr16:89789898

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr16:89789898

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het C @ chr16:89789898

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het C @ chr16:89789898

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr16:89789898

 

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr16:89789898

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr16:89789898

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom C @ chr16:89789898

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het C @ chr16:89789898

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom C @ chr16:89789898

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het C @ chr16:89789898

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr16:89789898

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr16:89789898

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr16:89789898

 

GS06994 - var-GS06994-1100-36-ASM
hom C @ chr16:88317399

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr16:88317399

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr16:88317399

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr16:88317399

 

GS18502 - var-GS18502-1100-36-ASM
hom C @ chr16:88317399

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr16:88317399

 

GS18505 - var-GS18505-1100-36-ASM
hom C @ chr16:88317399

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr16:88317399

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr16:88317399

 

GS18537 - var-GS18537-1100-36-ASM
hom C @ chr16:88317399

 

GS18555 - var-GS18555-1100-36-ASM
hom C @ chr16:88317399

 

GS18558 - var-GS18558-1100-36-ASM
hom C @ chr16:88317399

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr16:88317399

 

GS18942 - var-GS18942-1100-36-ASM
hom C @ chr16:88317399

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr16:88317399

 

GS18956 - var-GS18956-1100-36-ASM
hom C @ chr16:88317399

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr16:88317399

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr16:88317399

 

GS19129 - var-GS19129-1100-36-ASM
hom C @ chr16:88317399

 

GS19238 - var-GS19238-1100-36-ASM
hom C @ chr16:88317399

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr16:88317399

 

GS19240 - var-GS19240-1100-36-ASM
hom C @ chr16:88317399

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr16:88317399

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr16:88317399

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr16:88317399

 

GS19700 - var-GS19700-1100-36-ASM
hom C @ chr16:88317399

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr16:88317399

 

GS19704 - var-GS19704-1100-36-ASM
hom C @ chr16:88317399

 

GS19735 - var-GS19735-1100-36-ASM
hom C @ chr16:88317399

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr16:88317399

 

GS21767 - var-GS21767-1100-36-ASM
hom C @ chr16:88317399

 

Other external references
 

    dbSNP
  • rs6500437
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.776 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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