MYO5B R918H - GET-Evidence

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

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Curation:
Currentness:

(See the latest version)

MYO5B R918H

(MYO5B Arg918His)


You are viewing an old version of this page that was saved on November 29, 2012 at 7:09am by Genome Importing Robot.

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

  • T @ chr18:47429022: 9.9% (1014/10202) in EVS
  • T @ chr18:45683019: 10.7% (13/122) in GET-Evidence
  • Frequency shown in summary reports: 9.9% (1014/10202)

Publications
 

Genomes
 

Added in this revision:

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr18:47429022

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr18:47429022

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr18:47429022

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr18:47429022

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr18:47429022

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr18:45683020

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr18:45683020

 

GS12004 - var-GS12004-1100-36-ASM
hom T @ chr18:45683020

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr18:45683020

 

GS18940 - var-GS18940-1100-36-ASM
hom T @ chr18:45683020

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr18:45683020

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr18:45683020

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr18:45683020

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr18:45683020

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr18:45683020

 

Other external references
 

    dbSNP
  • rs2298624
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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