RNASEL c.1905+1341T>C

Variant ID: 1-182549019-A-G

NM_021133.3(RNASEL):c.1905+1341T>C

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs533259
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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: rs533259
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: rs533259
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



Methods for statistical fine-mapping and their applications to auto-immune diseases.

Seminars In Immunopathology
Wang, Qingbo S QS; Huang, Hailiang H
Publication Date: 2022-01

Variant appearance in text: rs533259
PubMed Link: 35041074
Variant Present in the following documents:
  • Main text
  • 281_2021_Article_902.pdf
View BVdb publication page



Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: RNASEL: 1905+1341T>C; rs533259
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs533259
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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: RNASEL: 1905+1341T>C; rs533259
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.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: rs533259
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: rs533259
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 3
View BVdb publication page



Inflammatory gene variants and the risk of biliary tract cancers and stones: a population-based study in China.

Bmc Cancer
Castro, Felipe A FA; Koshiol, Jill J; Hsing, Ann W AW; Gao, Yu-Tang YT; Rashid, Asif A; Chu, Lisa W LW; Shen, Ming-Chang MC; Wang, Bing-Shen BS; Han, Tian-Qua TQ; Zhang, Bai-He BH; Niwa, Shelley S; Yu, Kai K; Zhang, Hong H; Chanock, Stephen S; Andreotti, Gabriella G
Publication Date: 2012-10-11

Variant appearance in text: rs533259
PubMed Link: 23057767
Variant Present in the following documents:
  • Main text
  • 1471-2407-12-468.pdf
View BVdb publication page



Genetic variation in RNASEL associated with prostate cancer risk and progression.

Carcinogenesis
Meyer, Mara S MS; Penney, Kathryn L KL; Stark, Jennifer R JR; Schumacher, Fredrick R FR; Sesso, Howard D HD; Loda, Massimo M; Fiorentino, Michelangelo M; Finn, Stephen S; Flavin, Richard J RJ; Kurth, Tobias T; Price, Alkes L AL; Giovannucci, Edward L EL; Fall, Katja K; Stampfer, Meir J MJ; Ma, Jing J; Mucci, Lorelei A LA
Publication Date: 2010-09

Variant appearance in text: rs533259
PubMed Link: 20576793
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single and multivariate associations of MSR1, ELAC2, and RNASEL with prostate cancer in an ethnic diverse cohort of men.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Beuten, Joke J; Gelfond, Jonathan A L JA; Franke, Jennifer L JL; Shook, Stacey S; Johnson-Pais, Teresa L TL; Thompson, Ian M IM; Leach, Robin J RJ
Publication Date: 2010-02

Variant appearance in text: rs533259
PubMed Link: 20086112
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Breyer, Joan P JP; McReynolds, Kate M KM; Yaspan, Brian L BL; Bradley, Kevin M KM; Dupont, William D WD; Smith, Jeffrey R JR
Publication Date: 2009-07

Variant appearance in text: rs533259
PubMed Link: 19567509
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline mutation in RNASEL predicts increased risk of head and neck, uterine cervix and breast cancer.

Plos One
Madsen, Bo Eskerod BE; Ramos, Eliana Marisa EM; Boulard, Mathieu M; Duda, Katarzyna K; Overgaard, Jens J; Nordsmark, Marianne M; Wiuf, Carsten C; Hansen, Lise Lotte LL
Publication Date: 2008-06-25

Variant appearance in text: rs533259
PubMed Link: 18575592
Variant Present in the following documents:
  • Main text
  • pone.0002492.pdf
View BVdb publication page