MYH15 R454Q - 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:

(See the latest version)

MYH15 R454Q

(MYH15 Arg454Gln)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm 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 @ chr3:108189627: 22.0% (2206/10010) in EVS
  • T @ chr3:109672316: 16.4% (18/110) in GET-Evidence
  • Frequency shown in summary reports: 22.0% (2206/10010)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr3:108189627

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr3:108189627

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr3:108189627

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr3:109672317

 

GS06994 - var-GS06994-1100-36-ASM
hom T @ chr3:109672317

 

GS10851 - var-GS10851-1100-36-ASM
hom T @ chr3:109672317

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr3:109672317

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr3:109672317

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr3:109672317

 

Added in this revision:

GS20502 - var-GS20502-1100-36-ASM
het T @ chr3:109672317

 

snp-18

 

Other external references
 

    dbSNP
  • rs4299484
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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