APOB A618V - 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 A618V

(APOB Ala618Val)


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 @ chr2:21250914: 36.6% (3942/10758) in EVS
  • A @ chr2:21104418: 39.1% (50/128) in GET-Evidence
  • Frequency shown in summary reports: 36.6% (3942/10758)

Publications
 

Genomes
 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr2:21250914

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom A @ chr2:21250914

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom A @ chr2:21250914

 

 

 

 

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom A @ chr2:21250914

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr2:21250914

 

 

 

 

 

 

GS06985 - var-GS06985-1100-36-ASM
hom A @ chr2:21104419

 

GS18526 - var-GS18526-1100-36-ASM
hom A @ chr2:21104419

 

GS18537 - var-GS18537-1100-36-ASM
hom A @ chr2:21104419

 

GS18555 - var-GS18555-1100-36-ASM
hom A @ chr2:21104419

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr2:21104419

 

GS18940 - var-GS18940-1100-36-ASM
hom A @ chr2:21104419

 

GS18942 - var-GS18942-1100-36-ASM
hom A @ chr2:21104419

 

GS18947 - var-GS18947-1100-36-ASM
hom A @ chr2:21104419

 

GS18956 - var-GS18956-1100-36-ASM
hom A @ chr2:21104419

 

GS19239 - var-GS19239-1100-36-ASM
het A @ chr2:21104419

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr2:21104419

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr2:21104419

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr2:21104419

 

GS19669 - var-GS19669-1100-36-ASM
hom A @ chr2:21104419

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr2:21104419

 

GS19735 - var-GS19735-1100-36-ASM
het A @ chr2:21104419

 

GS20509 - var-GS20509-1100-36-ASM
hom A @ chr2:21104419

 

Other external references
 

    dbSNP
  • rs679899
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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