ABCA9 N785S - 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:

ABCA9 N785S

(ABCA9 Asn785Ser)


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 @ chr17:67017930: 2.4% (256/10752) in EVS
  • C @ chr17:64529524: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 2.4% (256/10752)

Publications
 

Genomes
 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het C @ chr17:67017930

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het C @ chr17:67017930

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr17:64529525

 

GS19735 - var-GS19735-1100-36-ASM
het C @ chr17:64529525

 

Other external references
 

    dbSNP
  • rs17684521
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.852 (probably damaging)
    Web search results (8 hits -- see all)
  • Supplementary Table xls.1
    Case frequencies. Control frequencies. 2. SNP ID1. Gene. Protein. AA2. AB2. BB2. AA2. AB2. BB2. 3 ... rs17684521. ABCA9. NP_525022. 2371. 182. 8. 2490. 196. 5. 7. rs1860447. ABCA9 ...
    icr.ac.uk/research/research_sections/.../6018.xls
  • ATP-binding cassette sub-family A member 9 - Homo sapiens (Human)
    ABCA9. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... structure of a novel cholesterol-responsive A subclass ABC transporter, ABCA9. ...
    www.uniprot.org/uniprot/Q8IUA7
  • ABCA9 Gene - GeneCards | ABCA9 Protein | ABCA9 Antibody
    EntrezGene summary for ABCA9: This gene is a member of the superfamily of ATP-binding ... ABCA9 Gene in genomic location: bands according to Ensembl, locations ...
    genecards.org/cgi-bin/carddisp.pl?gene=ABCA9&...&snp=155
  • Mooney Lab - MutDB
    Gene ID: ABCA9. Navigation: Non-Synonymous SNPs. Synonymous SNPs. Intronic SNPs. Untranslated ... ABCA9. Number of Transcript Variants. 0. Visualize Pathways. Using web services (slow) ...
    mutdb.org/cgi-bin/mutdb.pl?id=ABCA9&geneid=10350
  • UniProt: Q8IUA7
    AC Q8IUA7; Q6P655; Q8N2S4; Q8WWZ5; Q96MD8; DT 03-OCT-2006, integrated ... structure of a novel cholesterol-responsive A subclass ABC RT transporter, ABCA9. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q8IUA7

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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