CABLES2 S277P - 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:

CABLES2 S277P

(CABLES2 Ser277Pro)


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 @ chr20:60968547: 6.5% (700/10758) in EVS
  • G @ chr20:60401941: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 6.5% (700/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr20:60968547

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr20:60968547

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het G @ chr20:60968547

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het G @ chr20:60968547

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het G @ chr20:60968547

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr20:60401942

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr20:60401942

 

GS19834 - var-GS19834-1100-36-ASM
het G @ chr20:60401942

 

NA12878

 

Other external references
 

    dbSNP
  • rs41284972
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.266 (possibly damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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