MYO9A H1805Q - 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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Curation:
Currentness:

MYO9A H1805Q

(MYO9A His1805Gln)


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 @ chr15:72172883: 1.8% (197/10758) in EVS
  • C @ chr15:69959936: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 1.8% (197/10758)

Publications
 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het C @ chr15:72172883

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr15:72172883

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr15:69959937

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr15:69959937

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr15:69959937

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr15:69959937

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr15:69959937

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr15:69959937

 

Other external references
 

    dbSNP
  • rs2306575
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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