CSMD3 c.589G>A ;(p.G197R)

Variant ID: 8-114186071-C-T

NM_198123.1(CSMD3):c.589G>A;(p.G197R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology
Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C
Publication Date: 2022

Variant appearance in text: CSMD3: 589G>A; G197R
PubMed Link: 36387164
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Elucidation of genomic origin of synchronous endometrial and ovarian cancer (SEO) by genomic and microsatellite analysis.

Journal Of Gynecologic Oncology
Sakamoto, Ikuko I; Hirotsu, Yosuke Y; Amemiya, Kenji K; Nozaki, Takahiro T; Mochizuki, Hitoshi H; Omata, Masao M
Publication Date: 2022-10-06

Variant appearance in text: CSMD3: Gly197Arg
PubMed Link: 36245225
Variant Present in the following documents:
  • jgo-34-e6.pdf
View BVdb publication page