LARP4 F351L - GET-Evidence

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

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(LARP4 Phe351Leu)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



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

  • rs17124706
  • 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 ...
  • 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 ...
  • 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 ...
  • 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) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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