TTBK2 T1084M - 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:

TTBK2 T1084M

(TTBK2 Thr1084Met)


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 @ chr15:43044193: 2.7% (275/10122) in EVS
  • A @ chr15:40831484: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 2.7% (275/10122)

Publications
 

Genomes
 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr15:43044193

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr15:40831485

 

GS18947 - var-GS18947-1100-36-ASM
hom A @ chr15:40831485

 

GS18956 - var-GS18956-1100-36-ASM
het A @ chr15:40831485

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr15:40831485

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr15:40831485

 

Other external references
 

    dbSNP
  • rs34348991
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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