FBN1 c.5086T>G ;(p.Y1696D)

Variant ID: 15-48755417-A-C

NM_000138.4(FBN1):c.5086T>G;(p.Y1696D)

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:

The Clinical Cases of Geleophysic Dysplasia: One Gene, Different Phenotypes.

Case Reports In Endocrinology
Globa, Evgenia E; Zelinska, Nataliya N; Dauber, Andrew A
Publication Date: 2018

Variant appearance in text: FBN1: 5086T>G; Tyr1696Asp
PubMed Link: 30057829
Variant Present in the following documents:
  • Main text
  • CRIE2018-8212417.pdf
View BVdb publication page