FBN1 c.813C>A ;(p.C271*)

Variant ID: 15-48826326-G-T

NM_000138.4(FBN1):c.813C>A;(p.C271*)

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:

Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families.

Molecular Vision
Zhao, Feng F; Pan, Xinyuan X; Zhao, Kanxing K; Zhao, Chen C
Publication Date: 2013

Variant appearance in text: FBN1: 813C>A; C271*
PubMed Link: 23592911
Variant Present in the following documents:
  • Main text
  • mv-v19-751.pdf
View BVdb publication page