KMT2D c.12039_12046del ;(p.A4014Sfs*23)

Variant ID: 12-49426441-CCCAGGGCT-C

NM_003482.3(KMT2D):c.12039_12046del;(p.A4014Sfs*23)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25

Variant appearance in text: KMT2D: 12039_12046del
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Baldridge, Dustin D; Heeley, Jennifer J; Vineyard, Marisa M; Manwaring, Linda L; Toler, Tomi L TL; Fassi, Emily E; Fiala, Elise E; Brown, Sarah S; Goss, Charles W CW; Willing, Marcia M; Grange, Dorothy K DK; Kozel, Beth A BA; Shinawi, Marwan M
Publication Date: 2017-09

Variant appearance in text: KMT2D: 12039_12046delAGCCCTGG; A4014SfsX23
PubMed Link: 28252636
Variant Present in the following documents:
  • Main text
  • nihms853380.pdf
  • NIHMS853380-supplement-supp_table1.xlsx, sheet 1
View BVdb publication page