KISS1R A189T - 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:

KISS1R A189T

(KISS1R Ala189Thr)


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

  • A @ chr19:919933: 1.6% (162/9922) in EVS
  • A @ chr19:870932: 1.0% (1/96) in GET-Evidence
  • Frequency shown in summary reports: 1.6% (162/9922)

Publications
 

Genomes
 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr19:870933

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr19:870933

 

Other external references
 

    dbSNP
  • rs73507527
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (1 hit -- see all)
  • 1
    KiSS1R was known to be the cognate receptor for neuropeptides, called ... Screening KISS1R gene for mutations allow us to find three additional variations (p.Y313H, p.A189T and ...
    larc-neurosciences-2009.fr/.../abstracts LARC CAEN 2009.pdf

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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