FBN1 c.6309dup ;(p.D2104*)

Variant ID: 15-48729968-C-CA

NM_000138.4(FBN1):c.6309dup;(p.D2104*)

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:

Arrhythmic Mitral Valve Prolapse and Mitral Annulus Disjunction in Heritable Aortic Disease.

Cjc Open
Comber, Drake A DA; DeGraaf, Ashley A; Human, Derek D; Barlow, Amanda A; Indraratna, Praveen P; Sathananthan, Gnalini G; Laksman, Zachary Z
Publication Date: 2021-11

Variant appearance in text: FBN1: 6309dupT; D2104*
PubMed Link: 34901810
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page