FBN1 c.1454G>C ;(p.R485P)

Variant ID: 15-48807598-C-G

NM_000138.4(FBN1):c.1454G>C;(p.R485P)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing.

Scientific Reports
Nayak, Shalini S SS; Schneeberger, Pauline E PE; Patil, Siddaramappa J SJ; Arun, Karegowda M KM; Suresh, Pujar V PV; Kiran, Viralam S VS; Siddaiah, Sateesh S; Maiya, Shreesha S; Venkatachalagupta, Shrikanth K SK; Kausthubham, Neethukrishna N; Kortüm, Fanny F; Rau, Isabella I; Wey-Fabrizius, Alexandra A; Van Den Heuvel, Lotte L; Meester, Josephina J; Van Laer, Lut L; Shukla, Anju A; Loeys, Bart B; Girisha, Katta M KM; Kutsche, Kerstin K
Publication Date: 2021-01-12

Variant appearance in text: FBN1: 1454G>C; Arg485Pro
PubMed Link: 33436942
Variant Present in the following documents:
  • 41598_2020_Article_80755.pdf
View BVdb publication page