MUC16 c.38814C>G ;(p.L12938=)

Variant ID: 19-9011419-G-C

NM_024690.2(MUC16):c.38814C>G;(p.L12938=)

This variant was identified in 4 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Genetic variants in African-American and Hispanic patients with breast cancer.

Oncology Letters
Dutta, Pranabananda P; Keung, Man Y MY; Wu, Yanyuan Y; Vadgama, Jaydutt V JV
Publication Date: 2023-02

Variant appearance in text: MUC16: 38814C>G; L12938L
PubMed Link: 36644153
Variant Present in the following documents:
  • Supplementary_Data5.xlsx, sheet 2
View BVdb publication page


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: MUC16: L12938L
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
View BVdb publication page


Single-cell exome sequencing reveals multiple subclones in metastatic colorectal carcinoma.

Genome Medicine
Tang, Jie J; Tu, Kailing K; Lu, Keying K; Zhang, Jiaxun J; Luo, Kai K; Jin, Haoxuan H; Wang, Lei L; Yang, Lie L; Xiao, Weiran W; Zhang, Qilin Q; Liu, Xiaoling X; Ge, Xin Yi XY; Li, Guibo G; Zhou, Zongguang Z; Xie, Dan D
Publication Date: 2021-09-10

Variant appearance in text: MUC16: L12938L
PubMed Link: 34507604
Variant Present in the following documents:
  • 13073_2021_962_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page


Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One
Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD
Publication Date: 2019

Variant appearance in text: MUC16: 38814C>G
PubMed Link: 30608972
Variant Present in the following documents:
  • pone.0210079.s007.xlsx, sheet 4
  • pone.0210079.s007.xlsx, sheet 3
View BVdb publication page