BEST3 Y43H - 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:

BEST3 Y43H

(BEST3 Tyr43His)


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 @ chr12:70091452: 6.9% (661/9594) in EVS
  • G @ chr12:68377718: 6.3% (8/126) in GET-Evidence
  • Frequency shown in summary reports: 6.9% (661/9594)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr12:70091452

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr12:70091452

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr12:70091452

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr12:70091452

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr12:70091452

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr12:68377719

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr12:68377719

 

Other external references
 

    dbSNP
  • rs1025016
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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