ENOSF1 c.919-59G>C

Variant ID: 18-677931-C-G

NM_017512.5(ENOSF1):c.919-59G>C

This variant was identified in 12 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: rs2298581
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.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: rs2298581
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs2298581
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: ENOSF1: 919-59G>C; rs2298581
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: ENOSF1: 919-59G>C; rs2298581
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs2298581
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2298581
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: rs2298581
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: rs2298581
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



Analysis of polymorphisms and haplotype structure of the human thymidylate synthase genetic region: a tool for pharmacogenetic studies.

Plos One
Ghosh, Soma S; Hossain, M Zulfiquer MZ; Borges, Michael M; Goggins, Michael G MG; Ingersoll, Roxann G RG; Eshleman, James R JR; Klein, Alison P AP; Kern, Scott E SE
Publication Date: 2012

Variant appearance in text: rs2298581
PubMed Link: 22496803
Variant Present in the following documents:
  • Main text
  • pone.0034426.pdf
View BVdb publication page



Variation in folate pathway genes and distal colorectal adenoma risk: a sigmoidoscopy-based case-control study.

Cancer Causes & Control : Ccc
Levine, A Joan AJ; Lee, Won W; Figueiredo, Jane C JC; Conti, David V DV; Vandenberg, David J DJ; Davis, Brian D BD; Edlund, Christopher K CK; Henning, Susanne M SM; Heber, David D; Stern, Mariana C MC; Haile, Robert W RW
Publication Date: 2011-04

Variant appearance in text: rs2298581
PubMed Link: 21274745
Variant Present in the following documents:
View BVdb publication page



Association of thymidylate synthase gene with endometrial cancer risk in a Chinese population.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Xu, Wang-Hong WH; Long, Ji-Rong JR; Zheng, Wei W; Ruan, Zhi-Xian ZX; Cai, Qiuyin Q; Cheng, Jia-Rong JR; Zhao, Gen-Ming GM; Xiang, Yong-Bing YB; Shu, Xiao-Ou XO
Publication Date: 2009-02

Variant appearance in text: rs2298581
PubMed Link: 19190136
Variant Present in the following documents:
  • Main text
View BVdb publication page