FBN1 c.303T>C ;(p.T101=)

Variant ID: 15-48902968-A-G

NM_000138.4(FBN1):c.303T>C;(p.T101=)

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:

A novel FBN1 missense mutation (p.C102Y) associated with ectopia lentis syndrome in a Chinese family.

International Journal Of Ophthalmology
Zhai, Yi Y; Wang, Wei W; Zhu, Ya-Nan YN; Li, Jin-Yu JY; Yu, Yin-Hui YH; Lai, Kai-Ran KR; Yao, Ke K
Publication Date: 2015

Variant appearance in text: FBN1: 303T>C
PubMed Link: 26558191
Variant Present in the following documents:
  • Main text
View BVdb publication page