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FBN1 c.6454G>C ;(p.E2152Q)
Variant ID: 15-48729200-C-G
NM_000138.4(
FBN1
):c.6454G>C;(p.E2152Q)
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:
Development and Validation of a Targeted Next-Generation Sequencing Gene Panel for Children With Neuroinflammation.
Jama Network Open
McCreary, Dara D; Omoyinmi, Ebun E; Hong, Ying Y; Mulhern, Ciara C; Papadopoulou, Charalampia C; Casimir, Marina M; Hacohen, Yael Y; Nyanhete, Rodney R; Ahlfors, Helena H; Cullup, Thomas T; Lim, Ming M; Gilmour, Kimberly K; Mankad, Kshitij K; Wassmer, Evangeline E; Berg, Stefan S; Hemingway, Cheryl C; Brogan, Paul P; Eleftheriou, Despina D
Publication Date: 2019-10-02
Variant appearance in text: FBN1: 6454G>C
PubMed Link:
31664448
Variant Present in the following documents:
jamanetwopen-2-e1914274-s001.pdf
View BVdb publication page