ANK3 Q2996H - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

ANK3 Q2996H

(ANK3 Gln2996His)


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

  • G @ chr10:61831651: 1.3% (135/10758) in EVS
  • G @ chr10:61501656: 2.3% (3/128) in GET-Evidence
  • Frequency shown in summary reports: 1.3% (135/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr10:61831651

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr10:61831651

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het G @ chr10:61831651

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr10:61501657

 

Other external references
 

    dbSNP
  • rs41274672
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (2 hits -- see all)
  • Ankyrin-3 - Homo sapiens (Human)
    ANK3. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic identifier. 9606 [NCBI] ... Q H: dbSNP rs41274672. VAR_061014. Natural variant. 3117. 1. I V: dbSNP rs28932171. ...
    www.uniprot.org/uniprot/Q12955
  • 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 = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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