MYO16 D181E - 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:

MYO16 D181E

(MYO16 Asp181Glu)


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 @ chr13:109438084: 2.3% (249/10758) in EVS
  • A @ chr13:108236084: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 2.3% (249/10758)

Publications
 

Genomes
 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr13:109438084

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr13:109438084

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr13:109438084

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr13:109438084

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr13:109438084

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom A @ chr13:109438084

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr13:109438084

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr13:108236085

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr13:108236085

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr13:108236085

 

Other external references
 

    dbSNP
  • rs911973
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.006 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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