SPEG R966Q - 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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(SPEG Arg966Gln)

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

  • A @ chr2:220331911: 1.9% (189/10162) in EVS
  • A @ chr2:220040154: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.9% (189/10162)



hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr2:220331911


hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr2:220331911


hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr2:220331911


hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr2:220331911


hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr2:220331911


GS06994 - var-GS06994-1100-36-ASM
het A @ chr2:220040155


Other external references

  • rs34861443
    Web search results (3 hits -- see all)
  • Striated muscle preferentially expressed protein kinase ...
    SPEG. Synonyms: APEG1, KIAA1297. Organism. Homo sapiens (Human) [Complete proteome] ... Also known as: SPEG; The sequence of this isoform differs from the ...
  • UniProt: Q15772
    AC Q15772; A8K0G6; A8MRU0; Q27J74; Q695L1; Q6FGA6; Q6ZQW1; Q6ZTL8; AC Q9P2P9; DT ... Short=APEG-1; GN Name=SPEG; Synonyms=APEG1, KIAA1297; OS Homo sapiens ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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