ATM P1054R - 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:

ATM P1054R

(ATM Pro1054Arg)


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 @ chr11:108143456: 1.6% (172/10758) in EVS
  • G @ chr11:107648665: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.6% (172/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr11:108143456

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het G @ chr11:108143456

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr11:107648666

 

Other external references
 

    dbSNP
  • rs1800057
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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