ANK3 I3117V - 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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Curation:
Currentness:

ANK3 I3117V

(ANK3 Ile3117Val)


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 @ chr10:61831290: 7.9% (855/10758) in EVS
  • C @ chr10:61501295: 6.3% (8/126) in GET-Evidence
  • Frequency shown in summary reports: 7.9% (855/10758)

Publications
 

Genomes
 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het C @ chr10:61831290

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het C @ chr10:61831290

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het C @ chr10:61831290

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
hom C @ chr10:61831290

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het C @ chr10:61831290

 

GS19669 - var-GS19669-1100-36-ASM
het C @ chr10:61501296

 

GS19834 - var-GS19834-1100-36-ASM
het C @ chr10:61501296

 

Other external references
 

    dbSNP
  • rs28932171
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (3 hits -- see all)
  • Ankyrin-3 - Homo sapiens (Human)
    ANK3. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic identifier. 9606 [NCBI] ... I V: dbSNP rs28932171. VAR_059116. Natural variant. 3123. 1. K R: dbSNP rs10821668. ...
    www.uniprot.org/uniprot/Q12955
  • 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 = –4
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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