NOTCH1 c.6959C>G ;(p.P2320R)

Variant ID: 9-139391232-G-C

NM_017617.3(NOTCH1):c.6959C>G;(p.P2320R)

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:

[Rosai-Dorfman disease: a clinicopathologic analysis and whole exome sequencing in 23 cases].

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi
Fu, W J WJ; Du, J J; Lu, J J; Wang, L Z LZ; Yang, J M JM; He, M X MX; Hu, X X XX
Publication Date: 2019-08-14

Variant appearance in text: NOTCH1: 6959C>G; P2320R
PubMed Link: 31495132
Variant Present in the following documents:
  • Main text
  • cjh-40-08-656.pdf
View BVdb publication page