EME1 F63L - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

EME1 F63L

(EME1 Phe63Leu)


You are viewing the latest version of this page, saved on November 29, 2012 at 4:43am by Genome Importing Robot.

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 @ chr17:48452756: 2.6% (275/10758) in EVS
  • C @ chr17:45807754: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 2.6% (275/10758)

Publications
 

Genomes
 

Added in this revision:

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr17:48452756

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr17:48452756

 

GS19701 - var-GS19701-1100-36-ASM
hom C @ chr17:45807755

 

Other external references
 

    dbSNP
  • rs17714854
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (7 hits -- see all)
  • EME1 Gene - GeneCards | EME1 Protein | EME1 Antibody
    EntrezGene summary for EME1: This gene encodes a protein that ... EME1 Gene in genomic location: bands according to Ensembl, locations according ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=EME1
  • Restricted Access Genetic Datasets
    EME1. rs17714854. T/C. 2/5/2009. EME1. rs17714940. C/T. 2/5/2009. EME1,LRRC59. rs17715019. T/C. 2/5 ... EME1,MRPL27. rs16948970. T/G. 2/5/2009. ERG rs461488. C/G. 9/20/2009. ESR1 ...
    cdc.gov/.../nhanes/nhanes3/restricted_genetic_data_list.pdf
  • Crossover junction endonuclease EME1 - Homo sapiens (Human)
    ... Crossover junction endonuclease EME1 OS=Homo sapiens GN=EME1 PE=1 SV=2 ... F L: dbSNP rs17714854. VAR_055709. Natural variant. 69. 1. E D: dbSNP ...
    www.uniprot.org/uniprot/Q96AY2
  • .:: repairsnps ::.
    Search results for 'EME1': Gene: EME1. Name: essential meiotic ... rs17714854. NP_689676. T>C. F>L. aa-position:63 [ SNP analysis ] 3. rs3760413. NP_689676. C>A. D> ...
    dna.uio.no/repairSNP/getsnps.php?gene=EME1
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs17714854. rs17718987*Q136E. rs17719289*CD22 NM_001771 NP_001762*S664G ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Mooney Lab - MutDB
    EME1. Number of Transcript Variants. 0. Visualize Pathways. Using web ... DBSNP:rs17714854. 62. F L. NCBI. In dbsnp. None. Not scored. DBSNP:rs3760413. 68. E D. NCBI. In ...
    www.mutdb.org/cgi-bin/mutdb.pl?id=EME1&geneid=146956
  • UniProt: Q96AY2
    ... RT "Identification and characterization of the human mus81-eme1 RT endonuclease. ... CHAIN 1 570 Crossover junction endonuclease EME1. FT /FTId=PRO_0000223630. FT MOD_RES 12 ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q96AY2

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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