APOB E4181K - 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:

(See the latest version)

APOB E4181K

(APOB Glu4181Lys)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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

  • T @ chr2:21225753: 16.7% (1793/10758) in EVS
  • T @ chr2:21079257: 16.4% (21/128) in GET-Evidence
  • Frequency shown in summary reports: 16.7% (1793/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr2:21225753

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom T @ chr2:21225753

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr2:21225753

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr2:21079258

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr2:21079258

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr2:21079258

 

GS19025 - var-GS19025-1100-36-ASM
hom T @ chr2:21079258

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr2:21079258

 

GS19239 - var-GS19239-1100-36-ASM
hom T @ chr2:21079258

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr2:21079258

 

Added in this revision:

GS19649 - var-GS19649-1100-36-ASM
het T @ chr2:21079258

 

NA12878

 

NA19240

 

snp-18

 

snp-27

 

snp-29

 

snp-5

 

Other external references
 

    dbSNP
  • rs1042031
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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