FBN1 c.5150_5152del ;(p.K1717del)

Variant ID: 15-48755350-ATCT-A

NM_000138.4(FBN1):c.5150_5152del;(p.K1717del)

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:

Myopia in the Diagnosis of Marfan Syndrome: An Important Early Sign of a Systemic Condition.

Cureus
Prajapati, Bhavini B BB; Monti, Jennifer J
Publication Date: 2022-03

Variant appearance in text: FBN1: Lys1717del
PubMed Link: 35505728
Variant Present in the following documents:
  • cureus-0014-00000023651.pdf
View BVdb publication page