KISS1 P81R - 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)

KISS1 P81R

(KISS1 Pro81Arg)


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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

  • C @ chr1:204159787: 19.7% (1456/7400) in EVS
  • C @ chr1:202426409: 13.6% (6/44) in GET-Evidence
  • Frequency shown in summary reports: 19.7% (1456/7400)

Publications
 

Genomes
 

 

 

Added in this revision:

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr1:204159787

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr1:202426410

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr1:202426410

 

GS18505 - var-GS18505-1100-36-ASM
hom C @ chr1:202426410

 

GS18508 - var-GS18508-1100-36-ASM
het C @ chr1:202426410

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr1:202426410

 

Other external references
 

    dbSNP
  • rs4889
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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