MED16 c.1736_1740del ;(p.R579Hfs*13)

Variant ID: 19-875275-TCAGCC-T

NM_005481.2(MED16):c.1736_1740del;(p.R579Hfs*13)

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:

A brain somatic RHEB doublet mutation causes focal cortical dysplasia type II.

Experimental & Molecular Medicine
Zhao, Shanshan S; Li, Zhenghui Z; Zhang, Muxian M; Zhang, Lingliang L; Zheng, Honghua H; Ning, Jinhuan J; Wang, Yanyan Y; Wang, Fengpeng F; Zhang, Xiaobin X; Gan, Hexia H; Wang, Yuanqing Y; Zhang, Xian X; Luo, Hong H; Bu, Guojun G; Xu, Huaxi H; Yao, Yi Y; Zhang, Yun-Wu YW
Publication Date: 2019-07-23

Variant appearance in text: MED16: 1736_1740del
PubMed Link: 31337748
Variant Present in the following documents:
  • Main text
  • 12276_2019_Article_277.pdf
View BVdb publication page