EGF c.512T>G ;(p.F171C)

Variant ID: 4-110865000-T-G

NM_001963.4(EGF):c.512T>G;(p.F171C)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Glanzmann thrombasthenia: state of the art and future directions.

Seminars In Thrombosis And Hemostasis
Nurden, Alan T AT; Pillois, Xavier X; Wilcox, David A DA
Publication Date: 2013-09

Variant appearance in text: EGF: Phe171Cys
PubMed Link: 23929305
Variant Present in the following documents:
  • Main text
View BVdb publication page


Molecular insight into human platelet antigens: structural and evolutionary conservation analyses offer new perspective to immunogenic disorders.

Transfusion
Landau, Meytal M; Rosenberg, Nurit N
Publication Date: 2011-03

Variant appearance in text: EGF: Phe171Cys
PubMed Link: 20804530
Variant Present in the following documents:
  • Main text
  • trf0051-0558.pdf
View BVdb publication page