APOB S3294P - 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:

APOB S3294P

(APOB Ser3294Pro)


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 @ chr2:21229860: 1.5% (160/10758) in EVS
  • G @ chr2:21083364: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 1.5% (160/10758)

Publications
 

Genomes
 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr2:21083365

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr2:21083365

 

Other external references
 

    dbSNP
  • rs12720855
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (8 hits -- see all)
  • Type I- 98%
    ... Reference(s) for phosphorylation site TBX19 O60806 S128F 128 VAR_018387 CMGC (0. ... rs17339472) 9205841 12393275 APOB P04114 S3294P 3294 VAR_020139 CAMK ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeI-_98.txt
  • Type I- 95%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Polymorphism (dbSNP:rs35924492) APOB P04114 T4484M 4484 VAR_020140 PKC (0.513) ...
    www.nih.go.kr/phosphovariant/html/family_whole/TypeI-_95.txt

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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