EGR1 c.1045T>G ;(p.F349V)

Variant ID: 5-137803183-T-G

NM_001964.2(EGR1):c.1045T>G;(p.F349V)

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:

Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.

Plos One
Kulkarni, Bipin P BP; Nair, Sona B SB; Vijapurkar, Manasi M; Mota, Leenam L; Shanbhag, Sharda S; Ali, Shehnaz S; Shetty, Shrimati D SD; Ghosh, Kanjaksha K
Publication Date: 2014

Variant appearance in text: 225: Phe349Val
PubMed Link: 25275492
Variant Present in the following documents:
  • Main text
  • pone.0108683.pdf
View BVdb publication page