CYBA V174A - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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CYBA V174A

(CYBA Val174Ala)


You are viewing an old version of this page that was saved on November 29, 2012 at 7:28am by Genome Importing Robot.

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

  • G @ chr16:88709828: 67.6% (4049/5986) in EVS
  • G @ chr16:87237328: 41.7% (5/12) in GET-Evidence
  • Frequency shown in summary reports: 67.6% (4049/5986)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
hom G @ chr16:88709828

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr16:88709828

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr16:88709828

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
hom G @ chr16:88709828

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom G @ chr16:88709828

 

hu34D5B9 - CGI sample GS01173-DNA_C07 from PGP sample 92161424
het G @ chr16:88709828

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het G @ chr16:88709828

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom G @ chr16:88709828

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom G @ chr16:88709828

 

Added in this revision:

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het G @ chr16:88709828

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr16:88709828

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr16:88709828

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr16:88709828

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr16:88709828

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het G @ chr16:88709828

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr16:88709828

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr16:88709828

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr16:88709828

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr16:88709828

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr16:88709828

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr16:88709828

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr16:87237329

 

GS18504 - var-GS18504-1100-36-ASM
hom G @ chr16:87237329

 

GS18526 - var-GS18526-1100-36-ASM
hom G @ chr16:87237329

 

Other external references
 

    dbSNP
  • rs1049254
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

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