【佳學(xué)基因檢測】全基因測序JAG1基因檢測有意義未明突變，我該怎么辦？

基因檢測的序列名稱：

JAG1

人體基因序列變化與疾病表征數(shù)據(jù)庫中的基因代碼：

182

人體基因序列數(shù)據(jù)庫中國際交流名稱全稱

jagged canonical Notch ligand 1

中國數(shù)據(jù)庫中基因全稱：鋸齒狀典型Notch配體1基因檢測報告英文版基因簡介

The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter a human homolog of the Drosophilia jagged receptor notch. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Jul 2008]

基因突變所影響的基因信息

JAG1編碼的鋸齒狀1蛋白是果蠅鋸齒狀蛋白的人類同源物。鋸齒狀的人1是受體缺口1的配體，后者是果蠅鋸齒狀的受體缺口的人類同源物。改變鋸齒狀1蛋白的突變會導(dǎo)致Alagille綜合征。通過缺口1的鋸齒狀1信號也已顯示在造血中起作用。[由RefSeq提供，2008年7月]

國際國內(nèi)該堿基因序列的其他英語文字母簡稱：

AGS, AGS1, AHD, AWS, CD339, DCHE, HJ1, JAGL1

基因解碼對該基因序列在細(xì)胞核中的染色體所給予的編號：

該基因序列位于人類第20號染色體上。

基因解碼對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：10618332；結(jié)束位置坐標(biāo)為：10654694。該基因序列在GRCh38版本中的起始位置坐標(biāo)為：10637684；結(jié)束位置坐標(biāo)為：10674046。正確的基因信息定位是基因檢測和對檢測結(jié)果進(jìn)行正確解讀的關(guān)鍵。

佳學(xué)基因解碼對該基因的功能分類：國際版

CD markers

基因解碼對該基因的功能分類：中文版

CD標(biāo)記

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)揮作用的場所（國際版）：

Golgi apparatus;Plasma membrane(Supported)

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）：

高爾基體；質(zhì)膜

該基因序列變化后增加的疾病風(fēng)險（國際版）：

Alagille Syndrome 1; Butterfly vertebral arch; Intrahepatic duct deficiency; Pigmentary retinal deposits; Reduced number of intrahepatic bile ducts; Alagille Syndrome; Corneal Dystrophy, Band-Shaped; Axenfeld anomaly (disorder); Medullary sponge kidney disease; Multiple small medullary renal cysts; Bone Diseases; Facies; Renal tubular acidosis; Chorioretinal atrophy; Pancreatic Insufficiency; Exocrine pancreatic insufficiency; Peripheral pulmonary artery stenosis; Long nose; Abnormal nasal morphology; Prolonged neonatal jaundice; Neonatal Jaundice; Nephronophthisis; Carcinoma, Pancreatic Ductal; Serum cholesterol raised; RENAL ADYSPLASIA; Renal dysplasia; Short ulnae; ULNAR HYPOPLASIA; Congenital hemivertebra; Increased hepatocellular carcinoma risk; Increased incidence of hepatocellular carcinoma; Preauricular dimple; Preauricular sinus; Embryotoxon; Posterior embryotoxon; Preauricular Fistulae, Congenital; Aortic coarctation; Abnormality of the ribs; Congenital hypoplasia of kidney; Papillary thyroid carcinoma; Vesico-Ureteral Reflux; Eye Abnormalities; Hypertriglyceridemia result; Underdeveloped brows; Underdeveloped supraorbital ridges; Hypercholesterolemia; Salivary Gland Neoplasms; Tetralogy of Fallot; Corneal diameter decreased; Microcornea; Thin lips; Short distal phalanges; Specific learning disability; Corneal Opacity; Cerebrovascular accident; Triangular face; Congenital Heart Defects; Broad forehead; Enophthalmos; Sunken eyes; Upward slant of palpebral fissure; Glioblastoma; Long narrow head; Narrow cranium shape; Narrow head shape; Narrow skull shape; Turridolichocephaly; Elevated hepatic transaminases; Hepatic enzyme increased; Liver enzymes abnormal; Liver function test increased; Liver function tests abnormal finding; Subclinical abnormal liver function tests; Transaminases increased; Atrial Septal Defects; Large auricle; Large dysplastic ears; Large pinnae; Large prominent ears; Large protruding ears; Large, floppy ears; Macrotia; Absent reflex; Absent tendon reflex; Reflex, Deep Tendon, Absent; Exophthalmos; Prominent eyes; Prominent globes; Protruding eyes; Liver Dysfunction; Adenoid Cystic Carcinoma; Bilateral fifth finger clinodactyly; Curvature of little finger; Myopia; Ventricular Septal Defects; Brachydactyly; Liver Cirrhosis; Infant, Small for Gestational Age; Intrauterine retardation; Fetal Growth Retardation; Concave bridge of nose; Depressed nasal bridge; Depressed nasal root/bridge; Deafness; Lung Neoplasms; Lens Opacities; Infantile onset; Cataract; Liver carcinoma; Orbital separation excessive; Cryptorchidism; Strabismus; Failure to gain weight; Pediatric failure to thrive; Mammary Neoplasms; Schizophrenia

如果該基因突變后，風(fēng)險可能增加的疾病類型（中文版）：

Alagille 綜合癥 2型；蝴蝶椎弓；肝內(nèi)導(dǎo)管缺陷；色素性視網(wǎng)膜沉積;肝內(nèi)膽管數(shù)量減少；阿拉吉爾綜合癥；角膜營養(yǎng)不良帶狀； Axenfeld 異常（紊亂）；髓質(zhì)海綿腎?。欢鄠€小腎髓質(zhì)囊腫；骨骼疾病；相;腎小管性酸中毒；脈絡(luò)膜視網(wǎng)膜萎縮；胰腺功能不全；胰腺外分泌功能不全；外周肺動脈狹窄；長鼻子;鼻腔形態(tài)異常；長期新生兒黃疸;新生兒黃疸；腎病;癌胰腺導(dǎo)管；血清膽固醇升高；腎發(fā)育不良；腎發(fā)育不良;短尺骨；尺骨發(fā)育不全；先天性半椎體；肝細(xì)胞癌風(fēng)險增加；肝細(xì)胞癌的發(fā)病率增加；耳前酒窩;耳前竇;胚胎毒素；后胚胎毒素；先天性耳前瘺；主動脈縮窄；肋骨異常;先天性腎發(fā)育不全；甲狀腺乳頭狀癌；膀胱輸尿管反流；眼睛異常；高甘油三酯血癥結(jié)果；眉毛不發(fā)達(dá)；眶上脊發(fā)育不全；高膽固醇血癥;唾液腺腫瘤；法洛四聯(lián)癥；角膜直徑減?。恍〗悄?；薄嘴唇;遠(yuǎn)端指骨短；特定的學(xué)習(xí)障礙；角膜混濁；腦血管意外；三角臉；先天性心臟缺陷；額頭寬闊；眼球內(nèi)陷；凹陷的眼睛；瞼裂向上傾斜；膠質(zhì)母細(xì)胞瘤；長而窄的頭；狹窄的顱骨形狀；窄頭型；狹窄的顱骨形狀； Turridolicochephaly;肝轉(zhuǎn)氨酶升高；肝酶升高；肝酶異常；肝功能檢查增加；肝功能檢查異常；亞臨床異常肝功能檢查；轉(zhuǎn)氨酶升高；房間隔缺損；大耳廓；發(fā)育不良的大耳朵；大耳廓；大而突出的耳朵；大而突出的耳朵；大而松軟的耳朵； Macrotia;沒有反射；腱反射消失；反射深肌腱缺席；眼球突出；突出的眼睛;突出的地球儀；突出的眼睛;肝功能障礙；腺樣囊性癌；雙側(cè)小指彎曲；小指彎曲；近視;室間隔缺損；短指；肝硬化；嬰兒小于胎齡兒；宮內(nèi)發(fā)育遲緩;胎兒生長遲緩；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；耳聾；肺腫瘤；晶狀體混濁；嬰兒期發(fā)?。?a href='http://www.vigrxplusreviewsreal.com/cp/jiancejiemaliebiao/2018/812.html' target='_blank'>白內(nèi)障;肝癌；軌道分離過度；隱睪;斜視；未能增加體重；兒科發(fā)育不良；乳腺腫瘤；精神分裂癥

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

Bone Density

GWAS基因檢測所解碼的該基因突變會增加風(fēng)險的疾病種類（中文版）：

骨密度

以該基因做靶點(diǎn)的藥物（國際版）：

正在通過基因解碼技術(shù)進(jìn)行收集、查證并編輯，請關(guān)注佳學(xué)基因，獲得及明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

針對該基因所產(chǎn)生的突變，可能有正確效果的藥物（中文版）：

正在通過基因解碼技術(shù)進(jìn)行收集、查證并編輯，請關(guān)注佳學(xué)基因，獲得及明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