FBN1 c.6505G>A ;(p.E2169K)

Variant ID: 15-48726902-C-T

NM_000138.4(FBN1):c.6505G>A;(p.E2169K)

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:

Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.

The Journal Of Biological Chemistry
Kirschner, Ryan R; Hubmacher, Dirk D; Iyengar, Garud G; Kaur, Jasvir J; Fagotto-Kaufmann, Christine C; Brömme, Dieter D; Bartels, Rainer R; Reinhardt, Dieter P DP
Publication Date: 2011-09-16

Variant appearance in text: FBN1: E2169K
PubMed Link: 21784848
Variant Present in the following documents:
  • Main text
View BVdb publication page