ABCF3 P503L - 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:

ABCF3 P503L

(ABCF3 Pro503Leu)


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 @ chr3:183908982: 3.1% (333/10758) in EVS
  • T @ chr3:185391675: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 3.1% (333/10758)

Publications
 

Genomes
 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr3:183908982

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr3:185391676

 

Other external references
 

    dbSNP
  • rs11706273
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.554 (possibly damaging)
    Web search results (7 hits -- see all)
  • ABCF3 Gene - GeneCards | ABCF3 Protein | ABCF3 Antibody
    ABCF3 Gene in genomic location: bands according to Ensembl, locations according to (and ... Monoclonal and Polyclonal Antibodies from Abnova (ABCF3) ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=ABCF3
  • Abcf3 : Blast Data : UCSD-Nature Molecule Pages
    Abcf3. Latest blast data retrieved 18 May 2010. Top 101 Blast Hits ... Isoform 1; Variant dbSNP:rs11706273 of ATP-binding cassette sub-family F member ...
    signaling-gateway.org/molecule/...&type=blast&adv=latest
  • Mooney Lab - MutDB
    Gene ID: ABCF3. Navigation: Non-Synonymous SNPs. Synonymous SNPs. Intronic SNPs. Untranslated ... ABCF3. Number of Transcript Variants. 0. Visualize Pathways. Using web services (slow) ...
    mutdb.org/cgi-bin/mutdb.pl?id=ABCF3&geneid=55324

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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