EFHC1 R159W - GET-Evidence

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

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(EFHC1 Arg159Trp)

You are viewing an old version of this page that was saved on November 29, 2012 at 2:53am by Genome Importing Robot.

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

  • T @ chr6:52303291: 10.0% (1072/10758) in EVS
  • T @ chr6:52411249: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 10.0% (1072/10758)



Added in this revision:




GS06994 - var-GS06994-1100-36-ASM
het T @ chr6:52411250


GS10851 - var-GS10851-1100-36-ASM
het T @ chr6:52411250


GS19703 - var-GS19703-1100-36-ASM
het T @ chr6:52411250


GS19834 - var-GS19834-1100-36-ASM
het T @ chr6:52411250


GS20502 - var-GS20502-1100-36-ASM
het T @ chr6:52411250


Other external references

  • rs3804506
  • Score: 0.057 (benign)
    Web search results (13 hits -- see all)
  • Heterogeneity at the JME 6p11-12 locus: absence of mutations ...
    PURPOSE: The EFHC1 gene, encoding a protein with a Ca(2+)-sensing EF-hand motif, ... The EFHC1 variants reported in Mexican families may be mendelian ...
  • Heterogeneity at the JME 6p11–12 Locus: Absence of Mutations ...
    Heterogeneity at the JME 6p11–12 Locus: Absence of Mutations in the EFHC1 Gene in Linked Dutch Families ... (c.-146_147delGC), nonsynonymous (R159W, R182H, M448T, I619L) ...
  • BSIでの研究成果:若年性ミオクロニーてんかん原因遺伝子の発見 - 理研BSIニュース No. 29(2005年8月号 ...
    研究チームは、米国カリフォルニア大学ロサンゼルス校との共同研究により、最も発症数の多いてんかんである若年性ミオクロニーてんかん(JME)の原因遺伝子EFHC1を発見しました。 ... また、JME患者だけでなく正常コントロールでもある一定の割合で見つかるR159W、 R182H、 I619Lの3種の多型も見出されました。 ...
  • 若年性ミオクロニーてんかん原因遺伝子の発見
    今まで報告されたほとんどの特発性てんかん原因遺伝子はイオンチャネルをコードしますが、EFHC1はイオンチャネルではない新規な蛋白をコードします。 ... ある一定の割合で見つかるR159W, R182H, I619Lの3種の多型も見いだされました。 EFHC1はカルシウムイオン結合モチーフを ...
  • 神経遺伝研究 チ ー ム
    R159W,R182H,I619L の 3 種の多型も見いだされた。 EFHC1 はカルシウムイオン結合モチーフを持つ 640 アミ. ノ酸からなる新規タンパクをコードする。 ... the EFHC1 protein overlapped in the mouse brain, the. EFHC1 protein increased current ...
  • Heterogeneity at the JME 6p11-12 locus: absence of mutations ...
    PURPOSE: The EFHC1 gene, encoding a protein with a Ca(2+)-sensing EF-hand motif, is localized at 6p12 and was recently reported as mutated in six ...
  • Trenité, DGAKN (Dorothée G A Kasteleijn-Nolst)
    Trenité, DGAKN (Dorothée G A Kasteleijn-Nolst) :: Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for ...
  • EFHC1, a protein mutated in juvenile myoclonic epilepsy ...
    BioInfoBank Library :: EFHC1, a protein mutated in juvenile myoclonic epilepsy, associates with the mitotic spindle through its N-terminus. Molecular characterization ...
  • A Multiplex Human Syndrome Implicates a Key Role for ...
    Piya Lahiry, Jian Wang, John F. Robinson, Jacob P. Turowec, David W. ... EFHC1. EF-hand domain (C') containing 1. 11. E3, c.190C>T. n/a. CGG-R; TGG-W; R159W; this ...

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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