PTGFRN R430Q - 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:

PTGFRN R430Q

(PTGFRN Arg430Gln)


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 @ chr1:117503940: 2.7% (289/10758) in EVS
  • A @ chr1:117305462: 9.4% (12/128) in GET-Evidence
  • Frequency shown in summary reports: 2.7% (289/10758)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr1:117503940

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr1:117503940

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr1:117503940

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr1:117503940

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr1:117503940

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr1:117305463

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr1:117305463

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr1:117305463

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr1:117305463

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr1:117305463

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr1:117305463

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr1:117305463

 

GS18942 - var-GS18942-1100-36-ASM
het A @ chr1:117305463

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr1:117305463

 

GS19669 - var-GS19669-1100-36-ASM
het A @ chr1:117305463

 

Other external references
 

    dbSNP
  • rs34625170
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.869 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in