MRPS9 S13L - 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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(MRPS9 Ser13Leu)

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

  • T @ chr2:105654588: 1.4% (155/10758) in EVS
  • T @ chr2:105021019: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 1.4% (155/10758)



hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr2:105654588


GS19239 - var-GS19239-1100-36-ASM
het T @ chr2:105021020


GS19240 - var-GS19240-1100-36-ASM
het T @ chr2:105021020


Other external references

  • rs13399067
    Web search results (5 hits -- see all)
  • MRPS9 Gene - GeneCards | RT09 Protein | RT09 Antibody
    EntrezGene summary for MRPS9: Mammalian mitochondrial ribosomal proteins are encoded by ... MRPS9 Gene in genomic location: bands according to Ensembl, locations ...
  • 1 Methods online supplement Allele Frequency and Genotype ...
    DNA pools, typically of 50 cases or controls, were made by mixing equal volumes of ... rs13399067 MRPS9. 0.019. Chr19:8906821 none. 0.029. rs8082153 NKIRAS2. 0. ...
  • 28S ribosomal protein S9, mitochondrial precursor - Homo ...
    MRPS9. Synonyms: RPMS9. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... S L: dbSNP rs13399067. VAR_047902. Hide | Top. SequencesHide. Sequence ...
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: MRPS9 ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
  • UniProt: P82933
    AC P82933; Q6PG40; DT 23-JAN-2002, integrated into UniProtKB/Swiss-Prot. ... DR CTD; 64965; -. DR GeneCards; GC02P105113; -. DR HGNC; HGNC:14501; MRPS9. ...

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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