【佳學(xué)基因檢測(cè)】NGS疾病篩查報(bào)告GABRA3突變，是什么意思？

基因檢測(cè)的序列名稱：

GABRA3

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

2556

人體基因序列數(shù)據(jù)庫中國際交流名稱全稱

gamma-aminobutyric acid type A receptor alpha3 subunit

中國數(shù)據(jù)庫中基因全稱：

γ-氨基丁酸A型受體alpha3亞基

基因檢測(cè)報(bào)告英文版基因簡介

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulated by agents such as benzodiazepines that bind to the GABA-A receptor. At least 16 distinct subunits of GABA-A receptors have been identified. [provided by RefSeq, Jul 2008]

基因突變所影響的基因信息

GABA是哺乳動(dòng)物大腦中主要的抑制性神經(jīng)遞質(zhì)，在GABA-A受體上起作用，該受體是配體門控的氯離子通道。這些通道的氯化物電導(dǎo)率可以通過與GABA-A受體結(jié)合的試劑（例如苯二氮雜）來調(diào)節(jié)。已經(jīng)鑒定出GABA-A受體的至少16個(gè)不同的亞基。[由RefSeq提供，2008年7月]

國際國內(nèi)該堿基基因序列的其他英語文字母簡稱：

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基因解碼對(duì)該基因序列在細(xì)胞核中的染色體所給予的編號(hào)：

該基因序列位于人類第正在通過基因解碼技術(shù)進(jìn)行收集、查證并編輯，請(qǐng)關(guān)注佳學(xué)基因，獲得及時(shí)更新的人類基因序列變化與疾病表征數(shù)據(jù)庫的更新內(nèi)容號(hào)染色體上。

基因解碼對(duì)基因序列的正確定位

該基因序列在GRCh37版本中的起始位置坐標(biāo)為：151334706；結(jié)束位置坐標(biāo)為：151619831。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：152166234；結(jié)束位置坐標(biāo)為：152451359。正確的基因信息定位是基因檢測(cè)和對(duì)檢測(cè)結(jié)果進(jìn)行正確解讀的關(guān)鍵。

佳學(xué)基因解碼對(duì)該基因的功能分類：國際版

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基因解碼對(duì)該基因的功能分類：中文版

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結(jié)構(gòu)與功能基因解碼所揭示的該基因在細(xì)胞內(nèi)發(fā)揮作用的場(chǎng)所（國際版）：

正在通過基因解碼技術(shù)進(jìn)行收集、查證并編輯，請(qǐng)關(guān)注佳學(xué)基因，獲得及時(shí)更新的人類基因序列變化與疾病表征數(shù)據(jù)庫的更新內(nèi)容

結(jié)構(gòu)與功能基因解碼所揭示的該基因發(fā)揮作用的細(xì)胞內(nèi)位置（中文版）：

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該基因序列變化后增加的疾病風(fēng)險(xiǎn)（國際版）：

Hyperkalemia, diminished renal excretion; Thyrotoxicosis with toxic single thyroid nodule; Toxic multinodular goiter; Transient hypophosphatemia; Thyrotoxic periodic paralysis; Episodic flaccid weakness; Episodic hypokalemia; Exercise-induced muscle fatigue; Urinary Retention; Periodic hypokalemic paresis; Hyperglycemia, Postprandial; Quadriplegia; Hypomagnesemia; Muscular stiffness; Increased intramyocellular lipid droplets; Graves Disease; Rhabdomyolysis; Palpitations; Mildly increased creatine kinase; Monoparesis - leg; Weakness of lower limb; Muscle Cramp; Electromyogram abnormal; Hyperhidrosis disorder; Increased sweating; Sweating; Weight decreased; Tremor; Decreased tendon reflex; Dyschezia; Constipation; Mental Depression; Obesity; Autistic Disorder; Depressive disorder; Bipolar Disorder

如果該基因突變后，風(fēng)險(xiǎn)可能增加的疾病類型（中文版）：

高鉀血癥腎排泄減少；伴有毒性單個(gè)甲狀腺結(jié)節(jié)的甲狀腺毒癥；毒性多結(jié)節(jié)性甲狀腺腫；短暫性低磷血癥；甲狀腺毒性周期性麻痹;發(fā)作性弛緩性無力；發(fā)作性低鉀血癥；運(yùn)動(dòng)引起的肌肉疲勞；尿潴留；周期性低血鉀性麻痹；高血糖餐后；四肢癱瘓；低鎂血癥;肌肉僵硬；增加肌細(xì)胞內(nèi)脂滴;格雷夫斯??；橫紋肌溶解癥；心悸;肌酸激酶輕度升高；單輕癱 - 腿;下肢無力；肌肉痙攣;肌電圖異常；多汗癥;出汗增多；出汗;體重下降；震顫;肌腱反射減弱；排便困難；便秘;精神抑郁癥；肥胖;自閉癥；抑郁癥；躁郁癥

GWAS基因檢測(cè)所建立的與該基因的疾病關(guān)聯(lián)（國際版）：

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GWAS基因檢測(cè)所解碼的該基因突變會(huì)增加風(fēng)險(xiǎn)的疾病種類（中文版）：

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以該基因做靶點(diǎn)的藥物（國際版）：

Temazepam (Inhibitory extracellular ligand-gated ion channel activity);Butalbital (Inhibitory extracellular ligand-gated ion channel activity);Talbutal (Inhibitory extracellular ligand-gated ion channel activity);Pentobarbital (Inhibitory extracellular ligand-gated ion channel activity);Meprobamate (Inhibitory extracellular ligand-gated ion channel activity);Eszopiclone (Inhibitory extracellular ligand-gated ion channel activity);Secobarbital (Inhibitory extracellular ligand-gated ion channel activity);Zolpidem (Inhibitory extracellular ligand-gated ion channel activity);Metharbital (Inhibitory extracellular ligand-gated ion channel activity);Adinazolam (Inhibitory extracellular ligand-gated ion channel activity);Thiopental (Inhibitory extracellular ligand-gated ion channel activity);Midazolam (Inhibitory extracellular ligand-gated ion channel activity);Flurazepam (Inhibitory extracellular ligand-gated ion channel activity);Primidone (Inhibitory extracellular ligand-gated ion channel activity);Halazepam (Inhibitory extracellular ligand-gated ion channel activity);Diazepam (Inhibitory extracellular ligand-gated ion channel activity);Oxazepam (Inhibitory extracellular ligand-gated ion channel activity);Methylphenobarbital (Inhibitory extracellular ligand-gated ion channel activity);Triazolam (Inhibitory extracellular ligand-gated ion channel activity);Ethanol (Inhibitory extracellular ligand-gated ion channel activity);Zopiclone (Inhibitory extracellular ligand-gated ion channel activity);Estazolam (Inhibitory extracellular ligand-gated ion channel activity);Amobarbital (Inhibitory extracellular ligand-gated ion channel activity);Aprobarbital (Inhibitory extracellular ligand-gated ion channel activity);Butethal (Inhibitory extracellular ligand-gated ion channel activity);Heptabarbital (Inhibitory extracellular ligand-gated ion channel activity);Hexobarbital (Inhibitory extracellular ligand-gated ion channel activity);Barbital (Inhibitory extracellular ligand-gated ion channel activity);Barbituric acid derivative (Inhibitory extracellular ligand-gated ion channel activity);Flunitrazepam (Inhibitory extracellular ligand-gated ion channel activity);Bromazepam (Inhibitory extracellular ligand-gated ion channel activity);Clotiazepam (Inhibitory extracellular ligand-gated ion channel activity);Fludiazepam (Inhibitory extracellular ligand-gated ion channel activity);Prazepam (Inhibitory extracellular ligand-gated ion channel activity);Quazepam (Inhibitory extracellular ligand-gated ion channel activity);Cinolazepam (Inhibitory extracellular ligand-gated ion channel activity);Nitrazepam (Inhibitory extracellular ligand-gated ion channel activity);Pagoclone (Inhibitory extracellular ligand-gated ion channel activity);Ganaxolone (Inhibitory extracellular ligand-gated ion channel activity)

針對(duì)該基因所產(chǎn)生的突變，可能有正確效果的藥物（中文版）：

替馬西泮（抑制細(xì)胞外配體門控離子通道活性）；布他比妥（抑制細(xì)胞外配體門控離子通道活性）；他布妥（抑制細(xì)胞外配體門控離子通道活性）；戊巴比妥（抑制細(xì)胞外配體門控離子通道活性）；甲丙氨酯（抑制細(xì)胞外配體門控離子通道活性）；依佐匹克?。ㄒ种萍?xì)胞外配體門控離子通道活性）；司可巴比妥（抑制細(xì)胞外配體門控離子通道活性）；唑吡坦（抑制細(xì)胞外配體門控離子通道活性）；美沙比妥（抑制細(xì)胞外配體門控離子通道活性）配體門控離子通道活性）；阿地那唑侖（抑制細(xì)胞外配體門控離子通道活性）；硫噴妥鈉（抑制細(xì)胞外配體門控離子通道活性）；咪達(dá)唑侖（抑制細(xì)胞外配體門控離子通道活性）；氟拉西泮（抑制細(xì)胞外配體-門控離子通道活性）門離子通道活性）；撲米酮（抑制細(xì)胞外配體門離子通道活性）；哈拉西泮（抑制細(xì)胞外配體門離子通道活性）；地西泮（抑制細(xì)胞外配體門離子通道活性）；奧沙西泮（抑制細(xì)胞外配體門離子通道活性）通道活性）；甲基苯巴比妥（抑制細(xì)胞外配體門控離子通道活性）；三唑侖（抑制細(xì)胞外配體門控離子通道活性）；乙醇（抑制細(xì)胞外配體門控離子通道活性）；佐匹克?。ㄒ种萍?xì)胞外配體門控離子通道活性);Estazolam（抑制細(xì)胞外配體門控離子通道活性）;Amobarbital（抑制細(xì)胞外配體門控離子通道活性）;Aprobarbital（抑制細(xì)胞外配體門控離子通道活性）;Butethal（抑制細(xì)胞外配體門控離子通道活性）;庚巴比妥（抑制細(xì)胞外配體門控離子通道活性）；己巴比妥（抑制細(xì)胞外配體門控離子通道活性）；巴比妥（抑制細(xì)胞外配體門控離子通道活性）；巴比妥酸衍生物（抑制細(xì)胞外配體門控離子通道活性）；氟硝西泮（抑制細(xì)胞外配體門控離子通道活性）；溴西泮（抑制細(xì)胞外配體門控離子通道活性）；氯噻西泮（抑制細(xì)胞外配體門控離子通道活性）；氟地西泮（抑制細(xì)胞外配體門控離子通道活性）；普拉西泮（抑制細(xì)胞外配體門控離子通道活性）；Quazepam（抑制細(xì)胞外配體門控離子通道活性）；Cinolazepam（抑制細(xì)胞外配體門控離子通道活性）；Nitrazepam（抑制細(xì)胞外配體門控離子通道活性）；Pagoclone（抑制細(xì)胞外配體門控離子通道活性）配體門控離子通道活性）；加奈索酮（抑制細(xì)胞外配體門控離子通道活性）