ANK3 H2885Q - GET-Evidence

About Genomes Guides Recent changes Contributors Download

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:

(See the latest version)

ANK3 H2885Q

(ANK3 His2885Gln)


You are viewing an old version of this page that was saved on November 29, 2012 at 3:04am by Genome Importing Robot.

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
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr10:61831984

 

hu3215A7 - PGP12 (hu3215A7) build 36, substitution variants, hu3215A7 build 36 substitution variants
het T @ chr10:61501990

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr10:61831984

 

Added in this revision:

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr10:61831984

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr10:61501990

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr10:61501990

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr10:61501990

 

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":

Log in



Data available under CC0. Web application © 2010-2014 Curoverse, Inc.