CRLS1 P193L - 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:

(See the latest version)

CRLS1 P193L

(CRLS1 Pro193Leu)


You are viewing an old version of this page that was saved on November 29, 2012 at 5:10am 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 @ chr20:6011934: 9.0% (969/10756) in EVS
  • T @ chr20:5959933: 4.8% (6/124) in GET-Evidence
  • Frequency shown in summary reports: 9.0% (969/10756)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr20:6011934

 

 

 

 

 

Added in this revision:

 

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het T @ chr20:6011934

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr20:6011934

 

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr20:5959934

 

Other external references
 

    dbSNP
  • rs41282950
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.988 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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