C2 c.929A>G ;(p.N310S)

Variant ID: 6-31903779-A-G

NM_000063.4(C2):c.929A>G;(p.N310S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic testing of complement and coagulation pathways in patients with severe hypertension and renal microangiopathy.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Larsen, Christopher P CP; Wilson, Jon D JD; Best-Rocha, Alejandro A; Beggs, Marjorie L ML; Hennigar, Randolph A RA
Publication Date: 2018-03

Variant appearance in text: rs144201432
PubMed Link: 29148534
Variant Present in the following documents:
  • Main text
  • modpathol2017154a.pdf
View BVdb publication page



XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Plos One
Talukder, Asoke K AK; Ravishankar, Shashidhar S; Sasmal, Krittika K; Gandham, Santhosh S; Prabhukumar, Jyothsna J; Achutharao, Prahalad H PH; Barh, Debmalya D; Blasi, Francesco F
Publication Date: 2015

Variant appearance in text: rs144201432
PubMed Link: 25905921
Variant Present in the following documents:
  • pone.0123569.s008.xls, sheet 1
View BVdb publication page