TNFRSF11A H141Y - 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:

TNFRSF11A H141Y

(TNFRSF11A His141Tyr)


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

  • T @ chr18:60021761: 12.6% (1324/10474) in EVS
  • T @ chr18:58172740: 2.7% (3/112) in GET-Evidence
  • Frequency shown in summary reports: 12.6% (1324/10474)

Publications
 

Genomes
 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom T @ chr18:60021761

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr18:60021761

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het T @ chr18:60021761

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr18:60021761

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr18:60021761

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr18:60021761

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr18:60021761

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr18:60021761

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr18:60021761

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr18:58172741

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr18:58172741

 

Other external references
 

    dbSNP
  • rs35211496
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.909 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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