CHAT A120T - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

CHAT A120T

(CHAT Ala120Thr)


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 @ chr10:50824619: 18.4% (1983/10758) in EVS
  • A @ chr10:50494624: 18.0% (23/128) in GET-Evidence
  • Frequency shown in summary reports: 18.4% (1983/10758)

Publications
 

Genomes
 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr10:50824619

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr10:50824619

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr10:50824619

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr10:50824619

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr10:50824619

 

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr10:50824619

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het A @ chr10:50824619

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr10:50824619

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr10:50824619

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr10:50824619

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het A @ chr10:50824619

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het A @ chr10:50824619

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr10:50824619

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr10:50824619

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het A @ chr10:50824619

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr10:50494625

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr10:50494625

 

GS10851 - var-GS10851-1100-36-ASM
hom A @ chr10:50494625

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr10:50494625

 

GS18526 - var-GS18526-1100-36-ASM
het A @ chr10:50494625

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr10:50494625

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr10:50494625

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr10:50494625

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr10:50494625

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr10:50494625

 

Other external references
 

    dbSNP
  • rs3810950
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.013 (benign)
    Web search results (26 hits -- see all)
  • INVESTIGATION OF THE RELATIONSHIP OF CANDIDATE GENES ON
    Of the 3 CHAT SNPs examined, we. detected both allelic and genotypic association of the ... Distribution of CHAT/ exon 5/A120T (rs3810950) Polymorphism in AD Cases and ...
    etd.library.pitt.edu/.../unrestricted/ozturk2005.final.pdf
  • Genetic variation in the choline acetyltransferase (CHAT ...
    CHAT is the key enzyme responsible for the synthesis of a neurotransmitter acetylcholine ... CHAT gene [5], other studies examined only one SNP in exon 5, A120T ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1609962
  • Reference SNP(refSNP) Cluster Report: rs3810950
    Database of Single Nucleotide Polymorphism ... CHAT/VACHT. 1508. GF. 0.545. 0.383. 0.072. 0.752. 0.737. 0.263. Summary. Average. Het.+/- std err: Individual. Count. Founders. Count ...
    www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=rs3810950
  • AlzGene
    The Alzheimer Research Forum, a dynamic online scientific knowledge base, reports on the latest Alzheimer's scientific research and develops databases of genes, ...
    alzgene.org/polydetail.asp?geneID=201&studyID=1241&...
  • Imageshack - puffdaddyandpenelopecruui5.jpg
    ImageShack offers image hosting, free photo sharing and video sharing. Upload your photos, host your videos, and share them with friends and family.
    img299.imageshack.us/i/scan1002jx5.jpg
  • Sequence variation in the CHAT locus shows no association ...
    Sequence variation in the CHAT locus shows no association with late-onset ... in CHAT, comprising three non-synonymous variants (D7N in the S exon, A120T in ...
    www.medscape.com/medline/abstract/12759818?prt=true
  • BiomedExperts: Sequence variation in the CHAT locus shows no ...
    'Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's disease.' on BiomedExperts. Find the right expert or researcher in 1.8 Million ...
    biomedexperts.com/Abstract.bme/12759818/...
  • BioPortfolio - CHAT publications
    ChAT, polymorphisms do not constitute a major genetic risk factor for susceptibility to ... variants, D7N and A120T, proved to be in complete linkage disequilibrium (late-onset ...
    www.bioportfolio.com/gene/1103-CHAT/publications.html
  • Genome-wide association study identifies variants at CLU and ...
    Sequence variation in the CHAT locus shows no association with late-onset Alzheimer's ... across the CHAT locus but two of the coding variants, D7N and A120T, proved to be in ...
    lib.bioinfo.pl/pmid:19734902
  • David Craig
    Scientific Experts, Genomes and Genes, Publications, Webpages, Research Topics about David Craig ... the CHAT locus but two of the coding variants, D7N and A120T, proved ...
    labome.org/expert/uk/queens/craig/david-craig-195173.html

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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