ESRRB P386S - 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:

ESRRB P386S

(ESRRB Pro386Ser)


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 @ chr14:76964655: 5.3% (574/10758) in EVS
  • T @ chr14:76034407: 2.7% (3/112) in GET-Evidence
  • Frequency shown in summary reports: 5.3% (574/10758)

Publications
 

Genomes
 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr14:76964655

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr14:76964655

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr14:76034408

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr14:76034408

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr14:76034408

 

Other external references
 

    dbSNP
  • rs35774316
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs61742642
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.069 (benign)
    Web search results (4 hits -- see all)
  • Mutations of ESRRB Encoding Estrogen-Related Receptor Beta ...
    Mutation analysis of ESRRB, a candidate gene in the overlapping region, revealed ... ESRRB encodes the estrogen-related receptor beta protein, and one of ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2253958
  • ARTICLE
    of ESRRB, a candidate gene in the overlapping region, revealed a homozygous 7 bp ... ESRRB encodes the estrogen-related receptor beta protein, and one of ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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