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.

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ANK3 Q2996H

(ANK3 Gln2996His)

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

  • 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)



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

  • rs41274672
    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. ...
  • 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 = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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