FBN1 c.4816+2T>C

Variant ID: 15-48757985-A-G

NM_000138.4(FBN1):c.4816+2T>C

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
,
Publication Date: 2020-09

Variant appearance in text: FBN1: 4816+2T>C
PubMed Link: 32546831
Variant Present in the following documents:
  • NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1
View BVdb publication page



Returning genomic results in a Federally Qualified Health Center: the intersection of precision medicine and social determinants of health.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Shaibi, Gabriel Q GQ; Kullo, Iftikhar J IJ; Singh, Davinder P DP; Hernandez, Valentina V; Sharp, Richard R RR; Cuellar, Idali I; De Filippis, Eleanna E; Levey, Sharon S; Breitkopf, Carmen Radecki CR; Mandarino, Lawrence J LJ; Yang, Ping P; Thibodeau, Stephen N SN; Lindor, Noralane M NM
Publication Date: 2020-09

Variant appearance in text: FBN1: 4816+2T>C
PubMed Link: 32371921
Variant Present in the following documents:
  • Main text
  • nihms-1595413.pdf
View BVdb publication page