FBN1 c.4381T>C ;(p.C1461R)

Variant ID: 15-48762909-A-G

NM_000138.4(FBN1):c.4381T>C;(p.C1461R)

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:

Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis.

Molecular Vision
Li, Jie J; Jia, Xiaoyun X; Li, Shiqiang S; Fang, Shaohua S; Guo, Xiangming X
Publication Date: 2014

Variant appearance in text: FBN1: 4381T>C; Cys1461Arg
PubMed Link: 25053872
Variant Present in the following documents:
  • Main text
  • mv-v20-1017.pdf
View BVdb publication page