ABCA9 N785S - GET-Evidence

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

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(ABCA9 Asn785Ser)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



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

  • rs17684521
  • 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 ...
  • 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. ...
  • 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 ...
  • 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) ...
  • 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. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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