ADPRHL1 T163I - 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:

ADPRHL1 T163I

(ADPRHL1 Thr163Ile)


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 @ chr13:114088074: 1.8% (197/10726) in EVS
  • A @ chr13:113136074: 0.8% (1/124) in GET-Evidence
  • Frequency shown in summary reports: 1.8% (197/10726)

Publications
 

Genomes
 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr13:114088074

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr13:114088074

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr13:113136075

 

Other external references
 

    PolyPhen-2
  • Score: 0.997 (probably damaging)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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