FBN1 c.5242T>A ;(p.C1748S)

Variant ID: 15-48752497-A-T

NM_000138.4(FBN1):c.5242T>A;(p.C1748S)

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: Cys1748Ser
PubMed Link: 30057829
Variant Present in the following documents:
  • Main text
View BVdb publication page