【佳学基因检测】全基因测序JAG1基因检测有意义未明突变，我该怎么办？

基因检测的序列名称：

JAG1

人体基因序列变化与疾病表征数据库中的基因代码：

182

人体基因序列数据库中国际交流名称全称

jagged canonical Notch ligand 1

中国数据库中基因全称：锯齿状典型Notch配体1基因检测报告英文版基因简介

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]

基因突变所影响的基因信息

JAG1编码的锯齿状1蛋白是果蝇锯齿状蛋白的人类同源物。锯齿状的人1是受体缺口1的配体，后者是果蝇锯齿状的受体缺口的人类同源物。改变锯齿状1蛋白的突变会导致Alagille综合征。通过缺口1的锯齿状1信号也已显示在造血中起作用。[由RefSeq提供，2008年7月]

国际国内该碱基因序列的其他英语文字母简称：

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

基因解码对该基因序列在细胞核中的染色体所给予的编号：

该基因序列位于人类第20号染色体上。

基因解码对基因序列的精准定位

该基因序列在GRCh37版本中的起始位置坐标为：10618332；结束位置坐标为：10654694。该基因序列在GRCh38版本中的起始位置坐标为：10637684；结束位置坐标为：10674046。精准的基因信息定位是基因检测和对检测结果进行准确解读的关键。

佳学基因解码对该基因的功能分类：国际版

CD markers

基因解码对该基因的功能分类：中文版

CD标记

结构与功能基因解码所揭示的该基因在细胞内发挥作用的场所（国际版）：

Golgi apparatus;Plasma membrane(Supported)

结构与功能基因解码所揭示的该基因发挥作用的细胞内位置（中文版）：

高尔基体；质膜

该基因序列变化后增加的疾病风险（国际版）：

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

如果该基因突变后，风险可能增加的疾病类型（中文版）：

Alagille 综合症 2型；蝴蝶椎弓；肝内导管缺陷；色素性视网膜沉积;肝内胆管数量减少；阿拉吉尔综合症；角膜营养不良带状； Axenfeld 异常（紊乱）；髓质海绵肾病；多个小肾髓质囊肿；骨骼疾病；相;肾小管性酸中毒；脉络膜视网膜萎缩；胰腺功能不全；胰腺外分泌功能不全；外周肺动脉狭窄；长鼻子;鼻腔形态异常；长期新生儿黄疸;新生儿黄疸；肾病;癌胰腺导管；血清胆固醇升高；肾发育不良；肾发育不良;短尺骨；尺骨发育不全；先天性半椎体；肝细胞癌风险增加；肝细胞癌的发病率增加；耳前酒窝;耳前窦;胚胎毒素；后胚胎毒素；先天性耳前瘘；主动脉缩窄；肋骨异常;先天性肾发育不全；甲状腺乳头状癌；膀胱输尿管反流；眼睛异常；高甘油三酯血症结果；眉毛不发达；眶上脊发育不全；高胆固醇血症;唾液腺肿瘤；法洛四联症；角膜直径减小；小角膜；薄嘴唇;远端指骨短；特定的学习障碍；角膜混浊；脑血管意外；三角脸；先天性心脏缺陷；额头宽阔；眼球内陷；凹陷的眼睛；睑裂向上倾斜；胶质母细胞瘤；长而窄的头；狭窄的颅骨形状；窄头型；狭窄的颅骨形状； Turridolicochephaly;肝转氨酶升高；肝酶升高；肝酶异常；肝功能检查增加；肝功能检查异常；亚临床异常肝功能检查；转氨酶升高；房间隔缺损；大耳廓；发育不良的大耳朵；大耳廓；大而突出的耳朵；大而突出的耳朵；大而松软的耳朵； Macrotia;没有反射；腱反射消失；反射深肌腱缺席；眼球突出；突出的眼睛;突出的地球仪；突出的眼睛;肝功能障碍；腺样囊性癌；双侧小指弯曲；小指弯曲；近视;室间隔缺损；短指；肝硬化；婴儿小于胎龄儿；宫内发育迟缓;胎儿生长迟缓；鼻梁凹陷；鼻梁凹陷；鼻根/鼻梁凹陷；耳聋；肺肿瘤；晶状体混浊；婴儿期发病；白内障;肝癌；轨道分离过度；隐睾;斜视；未能增加体重；儿科发育不良；乳腺肿瘤；精神分裂症

GWAS基因检测所建立的与该基因的疾病关联（国际版）：

Bone Density

GWAS基因检测所解码的该基因突变会增加风险的疾病种类（中文版）：

骨密度

以该基因做靶点的药物（国际版）：

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针对该基因所产生的突变，可能有精准效果的药物（中文版）：

正在通过基因解码技术进行收集、查证并编辑，请关注佳学基因，获得及明更新的人类基因序列变化与疾病表征数据库的更新内容