FBN1 c.6575G>T ;(p.C2192F)

Variant ID: 15-48726832-C-A

NM_000138.4(FBN1):c.6575G>T;(p.C2192F)

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:

Analysis of the contribution of 129 candidate genes to thoracic aortic aneurysm or dissection of a mixed cohort of sporadic and familial cases in South China.

American Journal Of Translational Research
Li, Ying Y; Fang, Miaoxian M; Yang, Jue J; Yu, Changjiang C; Kuang, Juntao J; Sun, Tucheng T; Fan, Ruixin R
Publication Date: 2021

Variant appearance in text: FBN1: 6575G>T; Cys2192phe
PubMed Link: 34150014
Variant Present in the following documents:
  • Main text
View BVdb publication page