LARP4 F351L - GET-Evidence

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

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Curation:
Currentness:

LARP4 F351L

(LARP4 Phe351Leu)


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

  • A @ chr12:50848132: 3.9% (367/9458) in EVS
  • A @ chr12:49134398: 3.2% (4/126) in GET-Evidence
  • Frequency shown in summary reports: 3.9% (367/9458)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr12:50848132

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr12:50848132

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr12:50848132

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr12:50848132

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr12:50848132

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr12:50848132

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr12:49134399

 

Other external references
 

    dbSNP
  • rs17124706
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.99 (probably damaging)
    Web search results (4 hits -- see all)
  • LARP4 Gene - GeneCards | LARP4 Protein | LARP4 Antibody
    LARP4 Gene in genomic location: bands according to Ensembl, locations ... RNAi Products for Gene knock-down (LARP4) OriGene 29mer shRNA kit in GFP-retroviral ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=LARP4
  • La-related protein 4 - Homo sapiens (Human)
    LARP4. ORF Names: PP13296. Organism. Homo sapiens (Human) [Complete ... F L: dbSNP rs17124706. VAR_055936. Natural variant. 502. 1. N T: dbSNP rs17124715. Ref.2 ...
    www.uniprot.org/uniprot/Q71RC2
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: LARP4 ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
    mutdb.org/cgi-bin/mutdb.pl?id=LARP4&geneid=113251
  • UniProt: Q71RC2
    AC Q71RC2; A8K6T1; Q5CZ97; Q6ZV14; Q96NF9; DT 19-JUL-2005, integrated into ... domain family member 4; GN Name=LARP4; ORFNames=PP13296; OS Homo sapiens (Human) ...
    www.genome.jp/dbget-bin/www_bget?uniprot+Q71RC2

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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