VSIG10L N3T - 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)

VSIG10L N3T

(VSIG10L Asn3Thr)


You are viewing an old version of this page that was saved on November 29, 2012 at 3:55am 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 @ chr19:51845371: 60.5% (1958/3234) in EVS
  • Frequency shown in summary reports: 60.5% (1958/3234)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom G @ chr19:51845371

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr19:51845371

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
hom G @ chr19:51845371

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom G @ chr19:51845371

 

 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants
het G @ chr19:56537183

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
hom G @ chr19:51845371

 

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom G @ chr19:51845371

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom G @ chr19:51845371

 

Added in this revision:

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr19:51845371

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom G @ chr19:51845371

 

Other external references
 

    dbSNP
  • rs10414211
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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