SHARPIN S282T - 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:

SHARPIN S282T

(SHARPIN Ser282Thr)


You are viewing the latest version of this page, saved on November 29, 2012 at 5:18am 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 @ chr8:145154257: 5.9% (618/10538) in EVS
  • G @ chr8:145226244: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 5.9% (618/10538)

Publications
 

Genomes
 

Added in this revision:

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr8:145154257

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het G @ chr8:145154257

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr8:145154257

 

GS06994 - var-GS06994-1100-36-ASM
het G @ chr8:145226245

 

Other external references
 

    dbSNP
  • rs11541804
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.86 (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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