F13A1 E652Q - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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F13A1 E652Q

(F13A1 Glu652Gln)

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 @ chr6:6152137: 21.8% (2342/10758) in EVS
  • G @ chr6:6097135: 19.5% (25/128) in GET-Evidence
  • Frequency shown in summary reports: 21.8% (2342/10758)



hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr6:6152137















huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr6:6152137


huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr6:6152137


huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr6:6152137



GS06985 - var-GS06985-1100-36-ASM
het G @ chr6:6097136


GS10851 - var-GS10851-1100-36-ASM
het G @ chr6:6097136


GS18504 - var-GS18504-1100-36-ASM
het G @ chr6:6097136


GS18526 - var-GS18526-1100-36-ASM
het G @ chr6:6097136


GS19017 - var-GS19017-1100-36-ASM
het G @ chr6:6097136


GS19020 - var-GS19020-1100-36-ASM
het G @ chr6:6097136


GS19025 - var-GS19025-1100-36-ASM
hom G @ chr6:6097136


GS19649 - var-GS19649-1100-36-ASM
hom G @ chr6:6097136


GS19669 - var-GS19669-1100-36-ASM
het G @ chr6:6097136


GS21767 - var-GS21767-1100-36-ASM
het G @ chr6:6097136


Other external references

  • rs5988
    Web search results (4 hits -- see all)
  • AceView: Gene:F13A1, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
  • Table 3 Text
    ... coagulation factor XIII, A1 polypeptide" 187 rs5983 F13A1 2162 6 6112832 NM_000129 NP_000120 A/T L589Q minus 7593 504. WIAF-CSNP WIAF-CSNP ...
  • Abstractband
    to provide data on the role of the F13A1 gene polymorphisms for coronary artery disease ... amino-acid exchanges in subunit A gene (V34l, k351M, V401I, P565l, V651I, e652Q) ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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