KDR c.2269G>C ;(p.A757P)

Variant ID: 4-55964968-C-G

NM_002253.2(KDR):c.2269G>C;(p.A757P)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: KDR: A757P; rs1293416103
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: KDR: A757P
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genetic Diagnostic Yield and Novel Causal Genes of Congenital Heart Disease.

Frontiers In Genetics
Tan, Meihua M; Wang, Xinrui X; Liu, Hongjie H; Peng, Xiaoyan X; Yang, You Y; Yu, Haifei H; Xu, Liangpu L; Li, Jia J; Cao, Hua H
Publication Date: 2022

Variant appearance in text: KDR: A757P
PubMed Link: 35910219
Variant Present in the following documents:
  • DataSheet1.xlsx, sheet 6
View BVdb publication page



Unique Genetic Characteristics and Clinical Prognosis of Female Patients with Lung Cancer Harboring RET Fusion Gene.

Scientific Reports
Qiu, Zhixin Z; Ye, Bingwei B; Wang, Ke K; Zhou, Ping P; Zhao, Shuang S; Li, Weimin W; Tian, Panwen P
Publication Date: 2020-06-25

Variant appearance in text: KDR: A757P
PubMed Link: 32587276
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_66883.pdf
View BVdb publication page