SPAG16 K425T - 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:

SPAG16 K425T

(SPAG16 Lys425Thr)


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 @ chr2:214794743: 26.7% (2873/10758) in EVS
  • C @ chr2:214502987: 31.2% (40/128) in GET-Evidence
  • Frequency shown in summary reports: 26.7% (2873/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het C @ chr2:214794743

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het C @ chr2:214794743

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr2:214794743

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr2:214794743

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr2:214794743

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het C @ chr2:214794743

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr2:214794743

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom C @ chr2:214794743

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom C @ chr2:214794743

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het C @ chr2:214794743

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom C @ chr2:214794743

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr2:214794743

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het C @ chr2:214794743

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het C @ chr2:214794743

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr2:214794743

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr2:214794743

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het C @ chr2:214794743

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr2:214794743

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr2:214794743

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het C @ chr2:214794743

 

GS06985 - var-GS06985-1100-36-ASM
het C @ chr2:214502988

 

GS07357 - var-GS07357-1100-36-ASM
het C @ chr2:214502988

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr2:214502988

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr2:214502988

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr2:214502988

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr2:214502988

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr2:214502988

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr2:214502988

 

GS18558 - var-GS18558-1100-36-ASM
hom C @ chr2:214502988

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr2:214502988

 

GS18947 - var-GS18947-1100-36-ASM
hom C @ chr2:214502988

 

GS18956 - var-GS18956-1100-36-ASM
hom C @ chr2:214502988

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr2:214502988

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr2:214502988

 

GS19238 - var-GS19238-1100-36-ASM
het C @ chr2:214502988

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr2:214502988

 

GS19240 - var-GS19240-1100-36-ASM
het C @ chr2:214502988

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr2:214502988

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr2:214502988

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr2:214502988

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr2:214502988

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr2:214502988

 

GS19704 - var-GS19704-1100-36-ASM
hom C @ chr2:214502988

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr2:214502988

 

GS19834 - var-GS19834-1100-36-ASM
hom C @ chr2:214502988

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr2:214502988

 

Other external references
 

    dbSNP
  • rs12623569
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.001 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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