CTU1 A107V - 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:

CTU1 A107V

(CTU1 Ala107Val)


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 @ chr19:51607507: 9.5% (470/4962) in EVS
  • A @ chr19:56299318: 19.4% (7/36) in GET-Evidence
  • Frequency shown in summary reports: 9.5% (470/4962)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom A @ chr19:51607507

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr19:51607507

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chr19:51607507

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het A @ chr19:51607507

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr19:51607507

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
het A @ chr19:51607507

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr19:51607507

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr19:51607507

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr19:51607507

 

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr19:51607507

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het A @ chr19:51607507

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het A @ chr19:51607507

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr19:56299319

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr19:56299319

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr19:56299319

 

GS19669 - var-GS19669-1100-36-ASM
hom A @ chr19:56299319

 

Other external references
 

    dbSNP
  • rs17855403
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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