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NOTCH1 c.7312C>T ;(p.P2438S)
Variant ID: 9-139390879-G-A
NM_017617.3(
NOTCH1
):c.7312C>T;(p.P2438S)
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:
Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.
Journal Of Translational Medicine
Manca, Antonella A; Paliogiannis, Panagiotis P; Colombino, Maria M; Casula, Milena M; Lissia, Amelia A; Botti, Gerardo G; Caracò, Corrado C; Ascierto, Paolo A PA; Sini, Maria Cristina MC; Palomba, Grazia G; Pisano, Marina M; , ; , ; Doneddu, Valentina V; Cossu, Antonio A; Palmieri, Giuseppe G; ,
Publication Date: 2019-08-28
Variant appearance in text: NOTCH1: 7312C>T; Pro2438Ser
PubMed Link:
31455347
Variant Present in the following documents:
12967_2019_2039_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page
Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples.
Journal Of Translational Medicine
Dallol, Ashraf A; Buhmeida, Abdelbaset A; Al-Ahwal, Mahmoud Shaheen MS; Al-Maghrabi, Jaudah J; Bajouh, Osama O; Al-Khayyat, Shadi S; Alam, Rania R; Abusanad, Atlal A; Turki, Rola R; Elaimi, Aisha A; Alhadrami, Hani A HA; Abuzenadah, Mohammed M; Banni, Huda H; Al-Qahtani, Mohammed H MH; Abuzenadah, Adel M AM
Publication Date: 2016-05-04
Variant appearance in text: NOTCH1: Pro2438Ser
PubMed Link:
27146902
Variant Present in the following documents:
Main text
12967_2016_Article_878.pdf
View BVdb publication page