ABHD12 A349T - GET-Evidence

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

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Curation:
Currentness:

ABHD12 A349T

(ABHD12 Ala349Thr)


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 @ chr20:25282967: 4.4% (474/10758) in EVS
  • T @ chr20:25230966: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 4.4% (474/10758)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr20:25282967

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr20:25282967

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr20:25282967

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr20:25230967

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr20:25230967

 

Other external references
 

    dbSNP
  • rs746748
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.453 (possibly damaging)
    Web search results (6 hits -- see all)
  • ABHD12 Gene - GeneCards | ABD12 Protein | ABD12 Antibody
    ABHD12 Gene in genomic location: bands according to Ensembl, locations according to (and ... ABHD12 for ontologies About GeneDecksing. Antibodies for ABHD12: ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=ABHD12
  • ABHD12 Gene - GeneCards | ABD12 Protein | ABD12 Antibody
    ABHD12 Gene in genomic location: bands according to Ensembl, locations according ... Antibodies from Abcam (ABHD12), each with their Abpromise SM ...
    genecards.ims.u-tokyo.ac.jp/cgi-bin/carddisp.pl?gene=ABHD12
  • Monoacylglycerol lipase ABHD12 - Homo sapiens (Human)
    ... Q8N2K0|ABD12_HUMAN Monoacylglycerol lipase ABHD12 OS=Homo sapiens GN=ABHD12 PE=2 SV=2 MRKRTEPVALEHERCAAAGSSSSGSAAAALDADCRLKQNLRLTGPAAAEPRCAADAGMKR ...
    www.uniprot.org/uniprot/Q8N2K0
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: ABHD12 Variant: NM_015600 ... DBSNP:rs746748. 348. A T. NCBI. In dbsnp. None. 0.21* Synonymous Mutations. Back to top. Source ...
    mutdb.org/.../mutdb.pl?id=ABHD12&geneid=26090&rsid=NM_015600

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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