FBN1 c.1908A>T ;(p.R636S)

Variant ID: 15-48797274-T-A

NM_000138.4(FBN1):c.1908A>T;(p.R636S)

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:

Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.

International Journal Of Molecular Sciences
Brodehl, Andreas A; Ebbinghaus, Hans H; Deutsch, Marcus-André MA; Gummert, Jan J; Gärtner, Anna A; Ratnavadivel, Sandra S; Milting, Hendrik H
Publication Date: 2019-09-06

Variant appearance in text: FBN1: R636S
PubMed Link: 31489928
Variant Present in the following documents:
  • Main text
View BVdb publication page