ANK3 H2885Q - 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.

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ANK3 H2885Q

(ANK3 His2885Gln)

You are viewing an old version of this page that was saved on November 29, 2012 at 3:55am by Genome Importing Robot.

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

  • 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)



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



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


Added in this revision:

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom T @ chr10:61831984


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

  • rs11599164
    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. ...
  • 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 ...
    Kidd Lab Frequency Database for releasing frequency data ... rs11599164. rs11599164. 61501990. 2. rs9804190. rs9804190. 61509837. 2. rs2241538. rs2241538. 61509977. 2. rs10509122 ...
  • 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 ...
  • 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 ...
  • 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. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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