FBN1 c.221T>A ;(p.L74*)

Variant ID: 15-48905233-A-T

NM_000138.4(FBN1):c.221T>A;(p.L74*)

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:

Marfan syndrome caused by a novel FBN1 mutation with associated pigmentary glaucoma.

American Journal Of Medical Genetics. Part A
Kuchtey, John J; Chang, Ta Chen TC; Panagis, Lampros L; Kuchtey, Rachel W RW
Publication Date: 2013-04

Variant appearance in text: FBN1: 221T>A
PubMed Link: 23444230
Variant Present in the following documents:
  • Main text
  • ajmg0161-0880.pdf
View BVdb publication page