DYNC2H1 T1288A - 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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DYNC2H1 T1288A

(DYNC2H1 Thr1288Ala)


You are viewing an old version of this page that was saved on November 29, 2012 at 5:10am 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 @ chr11:103027234: 8.6% (823/9572) in EVS
  • G @ chr11:102532443: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 8.6% (823/9572)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr11:103027234

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het G @ chr11:103027234

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr11:103027234

 

Added in this revision:

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom G @ chr11:103027234

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr11:103027234

 

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr11:103027234

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr11:102532444

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr11:102532444

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr11:102532444

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr11:102532444

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr11:102532444

 

Other external references
 

    dbSNP
  • rs17301750
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.149 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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