FBN1 c.164+5352A>T

Variant ID: 15-48931451-T-A

NM_000138.4(FBN1):c.164+5352A>T

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population.

Plos Genetics
Tcheandjieu, Catherine C; Aguirre, Matthew M; Gustafsson, Stefan S; Saha, Priyanka P; Potiny, Praneetha P; Haendel, Melissa M; Ingelsson, Erik E; Rivas, Manuel A MA; Priest, James R JR
Publication Date: 2020-11

Variant appearance in text: rs2247876
PubMed Link: 33226994
Variant Present in the following documents:
  • pgen.1008802.s003.xlsx, sheet 1
View BVdb publication page



A DNA pooling-based case-control study of myopia candidate genes COL11A1, COL18A1, FBN1, and PLOD1 in a Chinese population.

Molecular Vision
Yip, Shea Ping SP; Leung, Kim Hung KH; Fung, Wai Yan WY; Ng, Po Wah PW; Sham, Pak Chung PC; Yap, Maurice K H MK
Publication Date: 2011-03-26

Variant appearance in text: rs2247876
PubMed Link: 21527992
Variant Present in the following documents:
  • Main text
  • mv-v17-810.pdf
View BVdb publication page