EGF c.1694T>C ;(p.I565T)

Variant ID: 4-110890245-T-C

NM_001963.4(EGF):c.1694T>C;(p.I565T)

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:

In silico analysis of structural modifications in and around the integrin αIIb genu caused by ITGA2B variants in human platelets with emphasis on Glanzmann thrombasthenia.

Molecular Genetics & Genomic Medicine
Pillois, Xavier X; Peters, Pierre P; Segers, Karin K; Nurden, Alan T AT
Publication Date: 2018-03

Variant appearance in text: EGF: I565T
PubMed Link: 29385657
Variant Present in the following documents:
  • Main text
  • MGG3-6-249.pdf
View BVdb publication page