FBN1 c.2347A>C ;(p.N783H)

Variant ID: 15-48788369-T-G

NM_000138.4(FBN1):c.2347A>C;(p.N783H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

Human Genomics
Li, Mindy H MH; Abrudan, Jenica L JL; Dulik, Matthew C MC; Sasson, Ariella A; Brunton, Joshua J; Jayaraman, Vijayakumar V; Dugan, Noreen N; Haley, Danielle D; Rajagopalan, Ramakrishnan R; Biswas, Sawona S; Sarmady, Mahdi M; DeChene, Elizabeth T ET; Deardorff, Matthew A MA; Wilkens, Alisha A; Noon, Sarah E SE; Scarano, Maria I MI; Santani, Avni B AB; White, Peter S PS; Pennington, Jeffrey J; Conlin, Laura K LK; Spinner, Nancy B NB; Krantz, Ian D ID; Vetter, Victoria L VL
Publication Date: 2015-07-19

Variant appearance in text: FBN1: Asn783His
PubMed Link: 26187847
Variant Present in the following documents:
  • Main text
  • 40246_2015_Article_38.pdf
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