FBN1 c.3662G>A ;(p.C1221Y)

Variant ID: 15-48777621-C-T

NM_000138.4(FBN1):c.3662G>A;(p.C1221Y)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: FBN1: 3662G>A; Cys1221Tyr
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Comprehensive functional genomic analyses link APC somatic mutation and mRNA-miRNA networks to the clinical outcome of stage-III colorectal cancer patients.

Biomedical Journal
Chiang, Sum-Fu SF; Huang, Heng-Hsuan HH; Tsai, Wen-Sy WS; Chin-Ming Tan, Bertrand B; Yang, Chia-Yu CY; Huang, Po-Jung PJ; Yi-Feng Chang, Ian I; Lin, Jiarong J; Lu, Pei-Shan PS; Chin, En E; Liu, Yu-Hao YH; Yu, Jau-Song JS; Chiang, Jy-Ming JM; Hung, Hsin-Yuan HY; You, Jeng-Fu JF; Liu, Hsuan H
Publication Date: 2022-04

Variant appearance in text: FBN1: C1221Y
PubMed Link: 35550340
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: FBN1: 3662G>A; C1221Y
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

Nature Genetics
Doyle, Alexander J AJ; Doyle, Jefferson J JJ; Bessling, Seneca L SL; Maragh, Samantha S; Lindsay, Mark E ME; Schepers, Dorien D; Gillis, Elisabeth E; Mortier, Geert G; Homfray, Tessa T; Sauls, Kimberly K; Norris, Russell A RA; Huso, Nicholas D ND; Leahy, Dan D; Mohr, David W DW; Caulfield, Mark J MJ; Scott, Alan F AF; Destrée, Anne A; Hennekam, Raoul C RC; Arn, Pamela H PH; Curry, Cynthia J CJ; Van Laer, Lut L; McCallion, Andrew S AS; Loeys, Bart L BL; Dietz, Harry C HC
Publication Date: 2012-11

Variant appearance in text: FBN1: Cys1221Tyr
PubMed Link: 23023332
Variant Present in the following documents:
  • Main text
  • nihms405346.pdf
View BVdb publication page