FBN1 c.4537T>C ;(p.C1513R)

Variant ID: 15-48760654-A-G

NM_000138.4(FBN1):c.4537T>C;(p.C1513R)

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:

Fibrillin-1 gene mutations in a Chinese cohort with congenital ectopia lentis: spectrum and genotype-phenotype analysis.

The British Journal Of Ophthalmology
Chen, Zexu Z; Chen, Tianhui T; Zhang, Min M; Chen, Jiahui J; Deng, Michael M; Zheng, Jialei J; Lan, Li-Na LN; Jiang, Yongxiang Y
Publication Date: 2022-12

Variant appearance in text: FBN1: 4537T>C; Cys1513Arg
PubMed Link: 34281902
Variant Present in the following documents:
  • bjophthalmol-2021-319084supp003.pdf
View BVdb publication page