YSK4 E676Q - 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)

YSK4 E676Q

(YSK4 Glu676Gln)


You are viewing an old version of this page that was saved on November 29, 2012 at 3:45am 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

  • G @ chr2:135744416: 5.1% (553/10758) in EVS
  • G @ chr2:135460885: 9.4% (12/128) in GET-Evidence
  • Frequency shown in summary reports: 5.1% (553/10758)

Publications
 

Genomes
 

Added in this revision:

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het G @ chr2:135744416

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr2:135744416

 

GS18504 - var-GS18504-1100-36-ASM
het G @ chr2:135460886

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr2:135460886

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr2:135460886

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr2:135460886

 

GS18956 - var-GS18956-1100-36-ASM
het G @ chr2:135460886

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chr2:135460886

 

GS19129 - var-GS19129-1100-36-ASM
hom G @ chr2:135460886

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr2:135460886

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr2:135460886

 

Other external references
 

    dbSNP
  • rs1112542
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.98 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = –2
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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