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FBN1 c.1594_1596delinsTAA ;(p.D532*)
Variant ID: 15-48802359-ATC-TTA
NM_000138.4(
FBN1
):c.1594_1596delinsTAA;(p.D532*)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: Asp532X
PubMed Link:
26770496
Variant Present in the following documents:
Main text
View BVdb publication page