SPAG17 E158V - 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:

SPAG17 E158V

(SPAG17 Glu158Val)


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 @ chr1:118644524: 14.7% (1586/10758) in EVS
  • A @ chr1:118446046: 10.2% (13/128) in GET-Evidence
  • Frequency shown in summary reports: 14.7% (1586/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom A @ chr1:118644524

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr1:118644524

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het A @ chr1:118644524

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr1:118644524

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr1:118644524

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr1:118644524

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het A @ chr1:118644524

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr1:118644524

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr1:118644524

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr1:118644524

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr1:118644524

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr1:118644524

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr1:118446047

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr1:118446047

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr1:118446047

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr1:118446047

 

GS19238 - var-GS19238-1100-36-ASM
het A @ chr1:118446047

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr1:118446047

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr1:118446047

 

GS19670 - var-GS19670-1100-36-ASM
het A @ chr1:118446047

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr1:118446047

 

Other external references
 

    dbSNP
  • rs17185492
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.995 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in