ABCA1 I883M - 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:

ABCA1 I883M

(ABCA1 Ile883Met)


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

  • C @ chr9:107586753: 25.0% (2686/10758) in EVS
  • C @ chr9:106626573: 32.8% (42/128) in GET-Evidence
  • Frequency shown in summary reports: 25.0% (2686/10758)

Publications
 

Genomes
 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr9:107586753

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom C @ chr9:107586753

 

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom C @ chr9:107586753

 

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom C @ chr9:107586753

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het C @ chr9:107586753

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr9:107586753

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr9:107586753

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom C @ chr9:107586753

 

GS12004 - var-GS12004-1100-36-ASM
het C @ chr9:106626574

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr9:106626574

 

GS18502 - var-GS18502-1100-36-ASM
het C @ chr9:106626574

 

GS18517 - var-GS18517-1100-36-ASM
het C @ chr9:106626574

 

GS18526 - var-GS18526-1100-36-ASM
hom C @ chr9:106626574

 

GS18537 - var-GS18537-1100-36-ASM
het C @ chr9:106626574

 

GS18558 - var-GS18558-1100-36-ASM
het C @ chr9:106626574

 

GS18940 - var-GS18940-1100-36-ASM
het C @ chr9:106626574

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr9:106626574

 

GS18947 - var-GS18947-1100-36-ASM
het C @ chr9:106626574

 

GS19017 - var-GS19017-1100-36-ASM
het C @ chr9:106626574

 

GS19020 - var-GS19020-1100-36-ASM
het C @ chr9:106626574

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr9:106626574

 

GS19129 - var-GS19129-1100-36-ASM
hom C @ chr9:106626574

 

GS19238 - var-GS19238-1100-36-ASM
hom C @ chr9:106626574

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr9:106626574

 

GS19240 - var-GS19240-1100-36-ASM
hom C @ chr9:106626574

 

GS19648 - var-GS19648-1100-36-ASM
het C @ chr9:106626574

 

GS19649 - var-GS19649-1100-36-ASM
het C @ chr9:106626574

 

GS19669 - var-GS19669-1100-36-ASM
hom C @ chr9:106626574

 

GS19670 - var-GS19670-1100-36-ASM
het C @ chr9:106626574

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr9:106626574

 

GS19703 - var-GS19703-1100-36-ASM
het C @ chr9:106626574

 

GS19704 - var-GS19704-1100-36-ASM
hom C @ chr9:106626574

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr9:106626574

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr9:106626574

 

Other external references
 

    dbSNP
  • rs2066714
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the ABCA1 gene
    ABCA1-Associated Familial High Density Lipoprotein Deficiency
    Familial High Density Lipoprotein Deficiency
    Tangier Disease
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ABCA1

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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