COL3A1 c.3654G>T ;(p.P1218=)

Variant ID: 2-189873778-G-T

NM_000090.3(COL3A1):c.3654G>T;(p.P1218=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genomic characterization of a newly established esophageal squamous cell carcinoma cell line from China and published esophageal squamous cell carcinoma cell lines.

Cancer Cell International
Li, Xiang X; Tian, Dongping D; Guo, Yi Y; Qiu, Shiyue S; Xu, Zexin Z; Deng, Wen W; Su, Min M
Publication Date: 2020

Variant appearance in text: N/A
PubMed Link: 32489320
Variant Present in the following documents:
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: COL3A1: 3654G>T; Pro1218=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Natural variation in four human collagen genes across an ethnically diverse population.

Genomics
Chan, Ting-Fung TF; Poon, Annie A; Basu, Analabha A; Addleman, Nick R NR; Chen, Justin J; Phong, Angie A; Byers, Peter H PH; Klein, Teri E TE; Kwok, Pui-Yan PY
Publication Date: 2008-04

Variant appearance in text: COL3A1: P1218P
PubMed Link: 18272325
Variant Present in the following documents:
  • Main text
View BVdb publication page