FBN1 c.5309G>A ;(p.C1770Y)

Variant ID: 15-48748947-C-T

NM_000138.4(FBN1):c.5309G>A;(p.C1770Y)

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: 5309G>A; C1770Y
PubMed Link: 22913777
Variant Present in the following documents:
  • Main text
  • 1750-1172-7-55.pdf
View BVdb publication page