ABHD10 I251V - 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:

ABHD10 I251V

(ABHD10 Ile251Val)


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

  • G @ chr3:111710398: 5.0% (537/10758) in EVS
  • G @ chr3:113193087: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 5.0% (537/10758)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr3:111710398

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het G @ chr3:111710398

 

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr3:113193088

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr3:113193088

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr3:113193088

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr3:113193088

 

Other external references
 

    dbSNP
  • rs17429033
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (3 hits -- see all)
  • ABHD10 Gene - GeneCards | ABHDA Protein | ABHDA Antibody
    ABHD10 Gene in genomic location: bands according to Ensembl, locations according ... Abnova (ABHD10) OriGene Purified Recombinant Human Protein: ABHD10 ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=ABHD10&snp=91
  • Mooney Lab - MutDB
    Mooney Lab Home Publications Research Contact Us. Gene ID: ABHD10 ... MutDB MutPred In Silico Functional Profiling PhenoPred S-BLEST CRP Web Services ...
    mutdb.org/cgi-bin/mutdb.pl?id=ABHD10&geneid=55347

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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