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