FBN1 c.347-3137_347-3136insAA

Variant ID: 15-48895567-C-CTT

NM_000138.4(FBN1):c.347-3137_347-3136insAA

This variant was identified in 1 publication

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: rs66986842
PubMed Link: 33226994
Variant Present in the following documents:
  • pgen.1008802.s003.xlsx, sheet 1
View BVdb publication page