FAT1 c.5249C>G ;(p.T1750R)

Variant ID: 4-187542491-G-C

NM_005245.3(FAT1):c.5249C>G;(p.T1750R)

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:

Identification of rare variants in novel candidate genes in pulmonary atresia patients by next generation sequencing.

Computational And Structural Biotechnology Journal
Shi, Xin X; Zhang, Li L; Bai, Kai K; Xie, Huilin H; Shi, Tieliu T; Zhang, Ruilin R; Fu, Qihua Q; Chen, Sun S; Lu, Yanan Y; Yu, Yu Y; Sun, Kun K
Publication Date: 2020

Variant appearance in text: FAT1: T1750R
PubMed Link: 32128068
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page