ITGB3 c.538G>C ;(p.G180R)

Variant ID: 17-45361985-G-C

NM_000212.2(ITGB3):c.538G>C;(p.G180R)

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 genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations.

Orphanet Journal Of Rare Diseases
Zafarghandi Motlagh, F F; Fallah, M S MS; Bagherian, H H; Shirzadeh, T T; Ghasri, S S; Dabbagh, S S; Jamali, M M; Salehi, Z Z; Abiri, M M; Zeinali, S S
Publication Date: 2019-04-27

Variant appearance in text: ITGB3: Gly180Arg
PubMed Link: 31029159
Variant Present in the following documents:
  • Main text
  • 13023_2019_Article_1042.pdf
View BVdb publication page