FBN1 c.6127G>C ;(p.G2043R)

Variant ID: 15-48733954-C-G

NM_000138.4(FBN1):c.6127G>C;(p.G2043R)

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:

Whole-exome mutational landscape of neuroendocrine carcinomas of the gallbladder.

Signal Transduction And Targeted Therapy
Liu, Fatao F; Li, Yongsheng Y; Ying, Dongjian D; Qiu, Shimei S; He, Yong Y; Li, Maolan M; Liu, Yun Y; Zhang, Yijian Y; Zhu, Qin Q; Hu, Yunping Y; Liu, Liguo L; Li, Guoqiang G; Pan, Weihua W; Jin, Wei W; Mu, Jiasheng J; Cao, Yang Y; Liu, Yingbin Y
Publication Date: 2021-02-10

Variant appearance in text: FBN1: Gly2043Arg
PubMed Link: 33563892
Variant Present in the following documents:
  • 41392_2020_412_MOESM20_ESM.xlsx, sheet 1
  • 41392_2020_412_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page