FBN1 c.3295G>T ;(p.E1099*)

Variant ID: 15-48780352-C-A

NM_000138.4(FBN1):c.3295G>T;(p.E1099*)

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 systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.

Orphanet Journal Of Rare Diseases
Cui, Yazhou Y; Zhao, Heng H; Liu, Zhenxing Z; Liu, Chao C; Luan, Jing J; Zhou, Xiaoyan X; Han, Jinxiang J
Publication Date: 2012-08-22

Variant appearance in text: FBN1: 3295G>T; E1099X
PubMed Link: 22913777
Variant Present in the following documents:
  • Main text
  • 1750-1172-7-55.pdf
View BVdb publication page