ABI3 R44Q - 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:

ABI3 R44Q

(ABI3 Arg44Gln)


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 @ chr17:47293906: 4.4% (471/10758) in EVS
  • A @ chr17:44648904: 9.4% (12/128) in GET-Evidence
  • Frequency shown in summary reports: 4.4% (471/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het A @ chr17:47293906

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom A @ chr17:47293906

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr17:47293906

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het A @ chr17:47293906

 

GS10851 - var-GS10851-1100-36-ASM
het A @ chr17:44648905

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr17:44648905

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr17:44648905

 

GS18947 - var-GS18947-1100-36-ASM
het A @ chr17:44648905

 

GS19669 - var-GS19669-1100-36-ASM
hom A @ chr17:44648905

 

GS19735 - var-GS19735-1100-36-ASM
hom A @ chr17:44648905

 

Other external references
 

    dbSNP
  • rs2233369
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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