Database of Pathogenic Variants
Home
Variants
Diseases
Genes
About
Gene Detail
Gene Symbol
FBN1
Gene:2200
HGNC:3603
Gene Name
fibrillin 1
Chromosome
15
Cytogenetic Band
q21.1
RefSeq Accession
NM_000138
Associated Diseases
Marfan syndrome
Associated Variants
NM_000138.4:c.8533_8537delCTAGA
NM_000138.4:c.8521G>T
NM_000138.4:c.7792dupC
NM_000138.4:c.7790dupT
NM_000138.4:c.7780C>T
NM_000138.4:c.7695T>A
NM_000138.4:c.7240C>T
NM_000138.4:c.7039_7040delAT
NM_000138.4:c.6837delG
NM_000138.4:c.6703_6704delGG
NM_000138.4:c.6665delT
NM_000138.4:c.6658C>T
NM_000138.4:c.6487G>T
NM_000138.4:c.6448delC
NM_000138.4:c.6379G>T
NM_000138.4:c.6161A>C
NM_000138.4:c.5404A>T
NM_000138.4:c.5198G>A
NM_000138.4:c.4973delG
NM_000138.4:c.4955G>A
NM_000138.4:c.4786C>T
NM_000138.4:c.4750G>T
NM_000138.4:c.4709G>A
NM_000138.4:c.4621C>T
NM_000138.4:c.4567C>T
NM_000138.4:c.4411_4420dupGAGTGTGAGA
NM_000138.4:c.3677G>T
NM_000138.4:c.3603C>A
NM_000138.4:c.3528delG
NM_000138.4:c.3221G>T
NM_000138.4:c.2753delC
NM_000138.4:c.2566_2567insT
NM_000138.4:c.2438C>G
NM_000138.4:c.1585C>T
NM_000138.4:c.1090C>T
NM_000138.4:c.945T>A
NM_000138.4:c.643C>T
NM_000138.4:c.7754T>C
NM_000138.4:c.7466G>A
NM_000138.4:c.7071_7079delCGTCACCAA
NM_000138.4:c.7015T>G
NM_000138.4:c.6871+5G>A
NM_000138.4:c.6518G>A
NM_000138.4:c.6453C>T
NM_000138.4:c.6296G>T
NM_000138.4:c.5873G>A
NM_000138.4:c.5371T>C
NM_000138.4:c.4942+1G>A
NM_000138.4:c.4280A>G
NM_000138.4:c.4088-1G>A
NM_000138.4:c.3503A>G
NM_000138.4:c.3263A>G
NM_000138.4:c.3043G>A
NM_000138.4:c.2638G>A
NM_000138.4:c.2201G>T
NM_000138.4:c.2171T>G
NM_000138.4:c.2167+1G>C
NM_000138.4:c.1960+3A>C
NM_000138.4:c.1911T>G
NM_000138.4:c.1786T>G
NM_000138.4:c.1709G>C
NM_000138.4:c.1327+5G>A
NM_000138.4:c.386G>A
NM_000138.4:c.4777G>T
NM_000138.4:c.8520_8523delAGAA
NM_000138.4:c.8135delC
NM_000138.4:c.8090delC
NM_000138.4:c.8063C>G
NM_000138.4:c.7982A>G
NM_000138.4:c.7938C>A
NM_000138.4:c.7936T>C
NM_000138.4:c.7906G>T
NM_000138.4:c.7864T>C
NM_000138.4:c.7831T>C
NM_000138.4:c.7699+1G>A
NM_000138.4:c.7664G>T
NM_000138.4:c.7582T>C
NM_000138.4:c.7565delG
NM_000138.4:c.7545delT
NM_000138.4:c.7444_7453+1del11
NM_000138.4:c.7409G>C
NM_000138.4:c.7408T>C
NM_000138.4:c.7406_7407insTGTT
NM_000138.4:c.7339G>T
NM_000138.4:c.7339G>A
NM_000138.4:c.7330+3_7330+6delAAGT
NM_000138.4:c.7266_7267delAG
NM_000138.4:c.7180C>T
NM_000138.4:c.7146delG
NM_000138.4:c.7141C>T
NM_000138.4:c.7090T>C
NM_000138.4:c.7088G>A
NM_000138.4:c.6997+5G>A
NM_000138.4:c.6982C>T
NM_000138.4:c.6947G>A
NM_000138.4:c.6932dupG
NM_000138.4:c.6915delG
NM_000138.4:c.6874G>T
NM_000138.4:c.6806T>C
NM_000138.4:c.6793T>C
NM_000138.4:c.6740-2A>G
NM_000138.4:c.6650G>A
NM_000138.4:c.6611G>T
NM_000138.4:c.6490T>C
NM_000138.4:c.6439G>T
NM_000138.4:c.6388G>T
NM_000138.4:c.6388G>A
NM_000138.4:c.6379+1G>A
NM_000138.4:c.6181T>C
NM_000138.4:c.6169C>T
NM_000138.4:c.6113G>A
NM_000138.4:c.5966G>T
NM_000138.4:c.5950T>C
NM_000138.4:c.5886T>G
NM_000138.4:c.5788+5G>C
NM_000138.4:c.5788+5G>A
NM_000138.4:c.5725_5740delinsCAGTTGAA
NM_000138.4:c.5559T>G
NM_000138.4:c.5431G>A
NM_000138.4:c.5368C>T
NM_000138.4:c.5331_5337delinsATACACA
NM_000138.4:c.5177delG
NM_000138.4:c.5162G>A
NM_000138.4:c.5065+1G>A
NM_000138.4:c.5060G>A
NM_000138.4:c.4993A>T
NM_000138.4:c.4973G>A
NM_000138.4:c.4930C>T
NM_000138.4:c.4834G>T
NM_000138.4:c.4824_4826delTGA
NM_000138.4:c.4754_4761delACAAAATT
NM_000138.4:c.4588C>T
NM_000138.4:c.4583-1G>A
NM_000138.4:c.4507_4508delGT
NM_000138.4:c.4408T>C
NM_000138.4:c.4382G>C
NM_000138.4:c.4337-1G>A
NM_000138.4:c.4331G>T
NM_000138.4:c.4222T>C
NM_000138.4:c.4166G>C
NM_000138.4:c.4066G>T
NM_000138.4:c.4021A>C
NM_000138.4:c.3919T>C
NM_000138.4:c.3851G>A
NM_000138.4:c.3781T>G
NM_000138.4:c.3746G>C
NM_000138.4:c.3713-1G>A
NM_000138.4:c.3712+1G>A
NM_000138.4:c.3670C>T
NM_000138.4:c.3622delT
NM_000138.4:c.3584G>A
NM_000138.4:c.3559delC
NM_000138.4:c.3463G>C
NM_000138.4:c.3458G>A
NM_000138.4:c.3373C>T
NM_000138.4:c.3242G>A
NM_000138.4:c.3209-1G>A
NM_000138.4:c.3093G>C
NM_000138.4:c.2953G>A
NM_000138.4:c.2920C>T
NM_000138.4:c.2886C>A
NM_000138.4:c.2729-1G>C
NM_000138.4:c.2722T>C
NM_000138.4:c.2651delG
NM_000138.4:c.2586T>G
NM_000138.4:c.2561G>A
NM_000138.4:c.2538_2539+5delAGGTATT
NM_000138.4:c.2447G>T
NM_000138.4:c.2413T>G
NM_000138.4:c.2293+1G>C
NM_000138.4:c.2237A>G
NM_000138.4:c.2153dupC
NM_000138.4:c.2113+3A>C
NM_000138.4:c.2113_2113+1delGG
NM_000138.4:c.2052_2058delTTGCGCC
NM_000138.4:c.1980delA
NM_000138.4:c.1961-3T>G
NM_000138.4:c.1955G>A
NM_000138.4:c.1949G>A
NM_000138.4:c.1910G>A
NM_000138.4:c.1904A>G
NM_000138.4:c.1879C>T
NM_000138.4:c.1637G>T
NM_000138.4:c.1623C>A
NM_000138.4:c.1495T>C
NM_000138.4:c.1477G>T
NM_000138.4:c.1468+5G>A
NM_000138.4:c.1416C>G
NM_000138.4:c.1285C>T
NM_000138.4:c.1129T>G
NM_000138.4:c.953delG
NM_000138.4:c.939C>G
NM_000138.4:c.923_926delTCAG
NM_000138.4:c.718C>T
NM_000138.4:c.493C>T
NM_000138.4:c.433T>C
NM_000138.4:c.385T>G
NM_000138.4:c.364C>T
NM_000138.4:c.347-2A>G
NM_000138.4:c.280T>C
NM_000138.4:c.111delC
NM_000138.4:c.2T>A
NM_000138.4:c.7988G>C
NM_000138.4:c.4096G>T
NM_000138.4:c.3662G>A
NM_000138.4:c.409C>T
NM_000138.4:c.7642_7644dup
NM_000138.4:c.3782A>C
NM_000138.4:c.2113+3A>C