NT5C3A c.166C>T ;(p.R56*)

Variant ID: 7-33066500-G-A

NM_001002010.2(NT5C3A):c.166C>T;(p.R56*)

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:

Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.

Frontiers In Physiology
Fermo, Elisa E; Vercellati, Cristina C; Marcello, Anna Paola AP; Keskin, Ebru Yilmaz EY; Perrotta, Silverio S; Zaninoni, Anna A; Brancaleoni, Valentina V; Zanella, Alberto A; Giannotta, Juri A JA; Barcellini, Wilma W; Bianchi, Paola P
Publication Date: 2021

Variant appearance in text: rs753346459
PubMed Link: 34093240
Variant Present in the following documents:
  • Main text
  • fphys-12-684569.pdf
View BVdb publication page