FBN1 c.1553dup ;(p.Y519Ifs*14)

Variant ID: 15-48805780-T-TC

NM_000138.4(FBN1):c.1553dup;(p.Y519Ifs*14)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Two novel mutations of FBN1 in Jordanian patients with Marfan syndrome.

International Journal Of Clinical And Experimental Medicine
Jaradat, Saied A SA; Abujamous, Lama A LA; Al-Hawamdeh, Ali A AA; Alawneh, Khaldoon M KM; Rawashdeh, Tamara A TA; Jaradat, Zaher M ZM
Publication Date: 2015

Variant appearance in text: FBN1: 1553dupG; Tyr519Ilefs*14
PubMed Link: 26770496
Variant Present in the following documents:
  • Main text
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