FBN1 c.5966G>C ;(p.C1989S)

Variant ID: 15-48736809-C-G

NM_000138.4(FBN1):c.5966G>C;(p.C1989S)

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: Cys1989Ser
PubMed Link: 33436942
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_80755.pdf
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