MYO9A I2390V - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

MYO9A I2390V

(MYO9A Ile2390Val)


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 @ chr15:72120240: 0.1% (7/10758) in EVS
  • C @ chr15:69907293: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 0.1% (7/10758)

Publications
 

Genomes
 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr15:72120240

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr15:69907294

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr15:69907294

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr15:69907294

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr15:69907294

 

Other external references
 

    dbSNP
  • rs2291280
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (5 hits -- see all)
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k ... 0;\-"ú"#,##0*"ú"#,##0;[Red]\-"ú"#,##0*"ú"#,##0.00;\-"ú"#,##0.00**#*"ú"#,##0.00; ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • Myosin-IXa - Homo sapiens (Human)
    MYO9A. Synonyms: MYR7. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... expression of unconventional myosin IXA (MYO9A) a gene in the Bardet-Biedl ...
    www.uniprot.org/uniprot/B2RTY4
  • Supplementary Table 1: The rs numbers and IMS numbers of the SNPs ...
    MYO9A. T/C. 125. 338. 262. 48. 208. 182. 0.0051. 0.3229. rs3784313. MYO9A. T/G. 124. 342. 262. 46. 215. 179 ... rs2291280. MYO9A. T/C. 448. 245. 34. 257. 153. 29. 0.1645. 0.7779. rs3815901 ...
    www.nature.com/jhg/journal/v54/n4/extref/jhg200916x1.doc
  • メタボリック症候群の検査方法 - 特開2009−27986
    メタボリック症候群を予測するための検査方法を提供する。 - メタボリック症候群の検査方法 - 特開2009−27986 ... 別の遺伝子であったことが報告されたため(非特許文献5)、MYO9A遺伝子の機能は不明である。 また、MYO9A遺伝子のメタボリック症候群との関わりについては全く知られていなかった。 ...
    tokkyoj.com/data/tk2009-27986.shtml
  • UniProt: MYO9A_HUMAN
    AC B2RTY4; B0I1T5; Q14787; Q3YLD7; Q3YLD8; Q6P986; Q9H8T5; Q9NTG2; AC Q9NUY2; ... expression of unconventional myosin IXA RT (MYO9A) a gene in the Bardet-Biedl ...
    www.genome.jp/dbget-bin/www_bget?uniprot:MYO9A_HUMAN

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in