FBN1 c.1491C>G ;(p.N497K)

Variant ID: 15-48805843-G-C

NM_000138.4(FBN1):c.1491C>G;(p.N497K)

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:

Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population.

Molecular Vision
Li, Dan D; Wang, Siying S; Ye, Hongfei H; Tang, Yating Y; Qiu, Xiaodi X; Fan, Qi Q; Rong, Xianfang X; Liu, Xin X; Chen, Yuhong Y; Yang, Jin J; Lu, Yi Y
Publication Date: 2016

Variant appearance in text: FBN1: Asn497Lys
PubMed Link: 27307692
Variant Present in the following documents:
  • Main text
  • mv-v22-589.pdf
View BVdb publication page