ANK3 H2885Q - GET-Evidence

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

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Curation:
Currentness:

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ANK3 H2885Q

(ANK3 His2885Gln)


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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 @ chr10:61831984: 7.9% (847/10754) in EVS
  • T @ chr10:61501989: 7.0% (9/128) in GET-Evidence
  • Frequency shown in summary reports: 7.9% (847/10754)

Publications
 

Genomes
 

Added in this revision:

 

snp-32

 

Other external references
 

    dbSNP
  • rs11599164
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (6 hits -- see all)
  • Ankyrin-3 - Homo sapiens (Human)
    ANK3. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic identifier. 9606 [NCBI] ... H Q: dbSNP rs11599164. VAR_059115. Natural variant. 2996. 1. Q H: dbSNP rs41274672. ...
    www.uniprot.org/uniprot/Q12955
  • A Scan of Chromosome 10 Identifies a Novel Locus Showing ...
    ANK3. X. rs10821675. ANK3. X. rs10821937. hCG41574. X. rs10822156. JMJD1C. X. rs10822160. JMJD1C. X ... rs11599164. ANK3. X. rs11599210. ADAMTS14. X. rs11599234. PTPLA. X. rs11600 ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1380225
  • ALFRED
    Kidd Lab Frequency Database for releasing frequency data ... rs11599164. rs11599164. 61501990. 2. rs9804190. rs9804190. 61509837. 2. rs2241538. rs2241538. 61509977. 2. rs10509122 ...
    alfred.med.yale.edu/alfred/recordinfop.asp?UNID=LO000920L
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs11599164*H2885Q. rs11601425*TMPRSS5 NM_030770 NP_110397*R46Q*11q ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • ANK3 Gene - GeneCards | ANK3 Protein | ANK3 Antibody
    EntrezGene summary for ANK3: Ankyrins are a family of proteins that are believed to link ... ANK3 Gene in genomic location: bands according to Ensembl, locations ...
    genecards.org/cgi-bin/carddisp.pl?gene=ANK3&...&snp=817
  • UniProt: Q12955
    AC Q12955; Q5VXD5; DT 11-JUL-2002, integrated into UniProtKB/Swiss-Prot. ... 288; -. DR CTD; 288; -. DR GeneCards; GC10M061458; -. DR HGNC; HGNC:494; ANK3. ...
    www.genome.jp/dbget-bin/www_bget?uniprot:Q12955

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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