EYA4 G277S - 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:

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EYA4 G277S

(EYA4 Gly277Ser)


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

  • A @ chr6:133789728: 38.6% (4149/10758) in EVS
  • A @ chr6:133831420: 41.4% (53/128) in GET-Evidence
  • Frequency shown in summary reports: 38.6% (4149/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr6:133789728

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr6:133789728

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr6:133789728

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr6:133831421

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr6:133831421

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr6:133831421

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr6:133831421

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr6:133831421

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr6:133831421

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr6:133831421

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr6:133831421

 

Added in this revision:

GS18517 - var-GS18517-1100-36-ASM
hom A @ chr6:133831421

 

NA12156

 

NA12878

 

NA18517

 

NA19129

 

NA19240

 

snp-1

 

snp-18

 

snp-2

 

snp-27

 

snp-28

 

snp-30

 

snp-31

 

snp-5

 

snp-6

 

Other external references
 

    dbSNP
  • rs9493627
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the EYA4 gene
    Dilated Cardiomyopathy
    Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant
    DFNA10 Nonsyndromic Hearing Loss and Deafness
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/EYA4
    PolyPhen-2
  • Score: 0.697 (possibly damaging)
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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