DYNC2H1 T1288A - 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:

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DYNC2H1 T1288A

(DYNC2H1 Thr1288Ala)


You are viewing an old version of this page that was saved on March 5, 2012 at 3:02pm 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
 

Added in this revision:

 

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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