ACAT1 A5P - 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:

ACAT1 A5P

(ACAT1 Ala5Pro)


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 @ chr11:107992346: 20.9% (2058/9836) in EVS
  • C @ chr11:107497555: 22.4% (26/116) in GET-Evidence
  • Frequency shown in summary reports: 20.9% (2058/9836)

Publications
 

Genomes
 

hu04FD18

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr11:107992346

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr11:107992346

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
hom C @ chr11:107992346

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het C @ chr11:107992346

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
hom C @ chr11:107992346

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het C @ chr11:107992346

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom C @ chr11:107992346

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het C @ chr11:107992346

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr11:107992346

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr11:107992346

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom C @ chr11:107992346

 

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het C @ chr11:107992346

 

huBEDA0B

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom C @ chr11:107992346

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr11:107992346

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom C @ chr11:107992346

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het C @ chr11:107992346

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom C @ chr11:107992346

 

GS12004 - var-GS12004-1100-36-ASM
hom C @ chr11:107497556

 

GS18504 - var-GS18504-1100-36-ASM
het C @ chr11:107497556

 

GS18526 - var-GS18526-1100-36-ASM
het C @ chr11:107497556

 

GS18942 - var-GS18942-1100-36-ASM
het C @ chr11:107497556

 

GS19026 - var-GS19026-1100-36-ASM
het C @ chr11:107497556

 

GS19670 - var-GS19670-1100-36-ASM
hom C @ chr11:107497556

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr11:107497556

 

GS19704 - var-GS19704-1100-36-ASM
het C @ chr11:107497556

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr11:107497556

 

Other external references
 

    dbSNP
  • rs11540420
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
  • rs3741056
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.137 (benign)
    Web search results (3 hits -- see all)
  • AceView: Gene:ACAT1, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=ACAT1
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • 9_1114762537
    qUDM0cThAN=T.gJS,_:1T5Qn8grcglJ%kGYlaiA!T0.hS\&2tIa*-ZO>Wr,Qk0(I0g[<pPm0:=f ... E/;@fci=q6IM$e%.=bgW"CQ*HMhh5`*iChfc.?YV4lS%q+PcFdYM.8gh'f7n0+1nOiVlnFHQ. ...
    www.obuda-ujlak.hu/upload/files/9_1114762537

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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