ACOT4 AY189QS - 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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(ACOT4 189_190delAYinsQS)

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

  • TCAAAG @ chr14:73130264: 4.8% (6/124) in GET-Evidence
  • Frequency shown in summary reports: 4.8% (6/124)



hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het TCAAAG @ chr14:74060512


hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het TCAAAG @ chr14:74060512



hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het TCAAAG @ chr14:74060512


hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom TCAAAG @ chr14:74060512


hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom TCAAAG @ chr14:74060512



huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het TCAAAG @ chr14:74060512


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het TCAAAG @ chr14:74060512


huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het TCAAAG @ chr14:74060512


GS06994 - var-GS06994-1100-36-ASM
het TCAAAG @ chr14:73130265


GS19129 - var-GS19129-1100-36-ASM
het TCAAAG @ chr14:73130265


GS20502 - var-GS20502-1100-36-ASM
het TCAAAG @ chr14:73130265


Other external references

  • rs79684878

Other in silico analyses

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 1

Edit history

Gene search

"GENE" or "GENE A123C":

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