FBN1 c.1286G>C ;(p.R429P)

Variant ID: 15-48808421-C-G

NM_000138.4(FBN1):c.1286G>C;(p.R429P)

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:

The Molecular Genetics of Marfan Syndrome.

International Journal Of Medical Sciences
Du, Qiu Q; Zhang, Dingding D; Zhuang, Yue Y; Xia, Qiongrong Q; Wen, Taishen T; Jia, Haiping H
Publication Date: 2021

Variant appearance in text: FBN1: 1286G>C
PubMed Link: 34220303
Variant Present in the following documents:
  • Main text
  • ijmsv18p2752.pdf
View BVdb publication page