FBN1 c.4187C>T ;(p.T1396I)

Variant ID: 15-48766475-G-A

NM_000138.4(FBN1):c.4187C>T;(p.T1396I)

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:

[Gene mutation analysis of 19 Uighur families with aortic disease in Kashgar, China].

Nan Fang Yi Ke Da Xue Xue Bao = Journal Of Southern Medical University
Yu, Changjiang C; Li, Ying Y; Adilijang, Abuduresuli A; Yan, Jizhong J; Guzalnur, Arkin A; Abudushalamu, Abudula A; Aimirela, Yimamu Y; Fan, Ruixin R
Publication Date: 2020-11-30

Variant appearance in text: FBN1: 4187C>T; T1396I
PubMed Link: 33243733
Variant Present in the following documents:
  • Main text
View BVdb publication page