APC c.1144_1145delinsGA ;(p.R382E)

Variant ID: 5-112154873-AG-GA

NM_000038.5(APC):c.1144_1145delinsGA;(p.R382E)

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:

Paradoxical bleeding and thrombotic episodes of dysprothrombinaemia due to a homozygous Arg382His mutation.

Thrombosis And Haemostasis
Ding, Qiulan Q; Yang, Likui L; Zhao, Xiaoqing X; Wu, Wenman W; Wang, Xuefeng X; Rezaie, Alireza R AR
Publication Date: 2017-02-28

Variant appearance in text: APC: Arg382Glu
PubMed Link: 27975099
Variant Present in the following documents:
  • Main text
View BVdb publication page