KMT2D c.8972C>T ;(p.P2991L)

Variant ID: 12-49432167-G-A

NM_003482.3(KMT2D):c.8972C>T;(p.P2991L)

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:

RNF213 gene mutation in circulating tumor DNA detected by targeted next-generation sequencing in the assisted discrimination of early-stage lung cancer from pulmonary nodules.

Thoracic Cancer
Jiang, Ning N; Zhou, Jie J; Zhang, Wenhao W; Li, Peichao P; Liu, Yu Y; Shi, Hubo H; Zhang, Chengke C; Wang, Yunshan Y; Zhou, Chengjun C; Peng, Chuanliang C; Zhang, Weiquan W; Hao, Yingtao Y; Sun, Qifeng Q; Li, Yuliang Y; Zhao, Xiaogang X
Publication Date: 2021-01

Variant appearance in text: KMT2D: P2991L
PubMed Link: 33200540
Variant Present in the following documents:
  • TCA-12-181-s002.xlsx, sheet 1
View BVdb publication page