MCM8 c.336+49T>C

Variant ID: 20-5935385-T-C

NM_032485.5(MCM8):c.336+49T>C

This variant was identified in 23 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: rs236114
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: rs236114
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
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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: rs236114
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
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: MCM8: 336+49T>C; rs236114
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs236114
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



A telescope GWAS analysis strategy, based on SNPs-genes-pathways ensamble and on multivariate algorithms, to characterize late onset Alzheimer's disease.

Scientific Reports
Squillario, Margherita M; Abate, Giulia G; Tomasi, Federico F; Tozzo, Veronica V; Barla, Annalisa A; Uberti, Daniela D; ,
Publication Date: 2020-07-21

Variant appearance in text: rs236114
PubMed Link: 32694537
Variant Present in the following documents:
  • 41598_2020_67699_MOESM1_ESM.pdf
View BVdb publication page



Unique insights from ClinicalTrials.gov by mining protein mutations and RSids in addition to applying the Human Phenotype Ontology.

Plos One
Alag, Shray S
Publication Date: 2020

Variant appearance in text: rs236114
PubMed Link: 32459809
Variant Present in the following documents:
  • Main text
  • pone.0233438.pdf
View BVdb publication page



Current and coming challenges in the management of the survivorship population.

Seminars In Oncology
Chow, Eric J EJ; Ness, Kirsten K KK; Armstrong, Gregory T GT; Bhakta, Nickhill N; Yeh, Jennifer M JM; Bhatia, Smita S; Landier, Wendy W; Constine, Louis S LS; Hudson, Melissa M MM; Nathan, Paul C PC
Publication Date: 2020-02

Variant appearance in text: rs236114
PubMed Link: 32197774
Variant Present in the following documents:
  • Main text
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: MCM8: 336+49T>C; rs236114
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



The genetic underpinnings of variation in ages at menarche and natural menopause among women from the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) Study: A trans-ethnic meta-analysis.

Plos One
Fernández-Rhodes, Lindsay L; Malinowski, Jennifer R JR; Wang, Yujie Y; Tao, Ran R; Pankratz, Nathan N; Jeff, Janina M JM; Yoneyama, Sachiko S; Carty, Cara L CL; Setiawan, V Wendy VW; Le Marchand, Loic L; Haiman, Christopher C; Corbett, Steven S; Demerath, Ellen E; Heiss, Gerardo G; Gross, Myron M; Buzkova, Petra P; Crawford, Dana C DC; Hunt, Steven C SC; Rao, D C DC; Schwander, Karen K; Chakravarti, Aravinda A; Gottesman, Omri O; Abul-Husn, Noura S NS; Bottinger, Erwin P EP; Loos, Ruth J F RJF; Raffel, Leslie J LJ; Yao, Jie J; Guo, Xiuqing X; Bielinski, Suzette J SJ; Rotter, Jerome I JI; Vaidya, Dhananjay D; Chen, Yii-Der Ida YI; Castañeda, Sheila F SF; Daviglus, Martha M; Kaplan, Robert R; Talavera, Gregory A GA; Ryckman, Kelli K KK; Peters, Ulrike U; Ambite, Jose Luis JL; Buyske, Steven S; Hindorff, Lucia L; Kooperberg, Charles C; Matise, Tara T; Franceschini, Nora N; North, Kari E KE
Publication Date: 2018

Variant appearance in text: rs236114
PubMed Link: 30044860
Variant Present in the following documents:
  • Main text
  • pone.0200486.pdf
View BVdb publication page



Transcriptome-Wide Association Study Identifies Susceptibility Loci and Genes for Age at Natural Menopause.

Reproductive Sciences (Thousand Oaks, Calif.)
Shi, Jiajun J; Wu, Lang L; Li, Bingshan B; Lu, Yingchang Y; Guo, Xingyi X; Cai, Qiuyin Q; Long, Jirong J; Wen, Wanqing W; Zheng, Wei W; Shu, Xiao-Ou XO
Publication Date: 2019-04

Variant appearance in text: rs236114
PubMed Link: 29848177
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variations, reproductive aging, and breast cancer risk in African American and European American women: The Women's Circle of Health Study.

Plos One
Coignet, Marie V MV; Zirpoli, Gary Robert GR; Roberts, Michelle R MR; Khoury, Thaer T; Bandera, Elisa V EV; Zhu, Qianqian Q; Yao, Song S
Publication Date: 2017

Variant appearance in text: rs236114
PubMed Link: 29073238
Variant Present in the following documents:
  • Main text
  • pone.0187205.pdf
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: rs236114
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Genetic variants of age at menopause are not related to timing of ovarian failure in breast cancer survivors.

Menopause (New York, N.Y.)
Homer, Michael V MV; Charo, Lindsey M LM; Natarajan, Loki L; Haunschild, Carolyn C; Chung, Karine K; Mao, Jun J JJ; DeMichele, Angela M AM; Su, H Irene HI
Publication Date: 2017-06

Variant appearance in text: rs236114
PubMed Link: 28118297
Variant Present in the following documents:
  • Main text
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: rs236114
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 3
View BVdb publication page



Meta-analysis of loci associated with age at natural menopause in African-American women.

Human Molecular Genetics
Chen, Christina T L CT; Liu, Ching-Ti CT; Chen, Gary K GK; Andrews, Jeanette S JS; Arnold, Alice M AM; Dreyfus, Jill J; Franceschini, Nora N; Garcia, Melissa E ME; Kerr, Kathleen F KF; Li, Guo G; Lohman, Kurt K KK; Musani, Solomon K SK; Nalls, Michael A MA; Raffel, Leslie J LJ; Smith, Jennifer J; Ambrosone, Christine B CB; Bandera, Elisa V EV; Bernstein, Leslie L; Britton, Angela A; Brzyski, Robert G RG; Cappola, Anne A; Carlson, Christopher S CS; Couper, David D; Deming, Sandra L SL; Goodarzi, Mark O MO; Heiss, Gerardo G; John, Esther M EM; Lu, Xiaoning X; Le Marchand, Loic L; Marciante, Kristin K; Mcknight, Barbara B; Millikan, Robert R; Nock, Nora L NL; Olshan, Andrew F AF; Press, Michael F MF; Vaiyda, Dhananjay D; Woods, Nancy F NF; Taylor, Herman A HA; Zhao, Wei W; Zheng, Wei W; Evans, Michele K MK; Harris, Tamara B TB; Henderson, Brian E BE; Kardia, Sharon L R SL; Kooperberg, Charles C; Liu, Yongmei Y; Mosley, Thomas H TH; Psaty, Bruce B; Wellons, Melissa M; Windham, Beverly G BG; Zonderman, Alan B AB; Cupples, L Adrienne LA; Demerath, Ellen W EW; Haiman, Christopher C; Murabito, Joanne M JM; Rajkovic, Aleksandar A
Publication Date: 2014-06-15

Variant appearance in text: rs236114
PubMed Link: 24493794
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic markers of ovarian reserve.

Seminars In Reproductive Medicine
Wood, Michelle A MA; Rajkovic, Aleksandar A
Publication Date: 2013-11

Variant appearance in text: rs236114
PubMed Link: 24101221
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluating GWAS-identified SNPs for age at natural menopause among chinese women.

Plos One
Shen, Chong C; Delahanty, Ryan J RJ; Gao, Yu-Tang YT; Lu, Wei W; Xiang, Yong-Bing YB; Zheng, Ying Y; Cai, Qiuyin Q; Zheng, Wei W; Shu, Xiao-Ou XO; Long, Jirong J
Publication Date: 2013

Variant appearance in text: rs236114
PubMed Link: 23536822
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation and reproductive timing: African American women from the Population Architecture using Genomics and Epidemiology (PAGE) Study.

Plos One
Spencer, Kylee L KL; Malinowski, Jennifer J; Carty, Cara L CL; Franceschini, Nora N; Fernández-Rhodes, Lindsay L; Young, Alicia A; Cheng, Iona I; Ritchie, Marylyn D MD; Haiman, Christopher A CA; Wilkens, Lynne L; Chunyuanwu, ; Matise, Tara C TC; Carlson, Christopher S CS; Brennan, Kathleen K; Park, Amy A; Rajkovic, Aleksandar A; Hindorff, Lucia A LA; Buyske, Steven S; Crawford, Dana C DC
Publication Date: 2013

Variant appearance in text: rs236114
PubMed Link: 23424626
Variant Present in the following documents:
  • Main text
View BVdb publication page



Replication of loci influencing ages at menarche and menopause in Hispanic women: the Women's Health Initiative SHARe Study.

Human Molecular Genetics
Chen, Christina T L CT; Fernández-Rhodes, Lindsay L; Brzyski, Robert G RG; Carlson, Christopher S CS; Chen, Zhao Z; Heiss, Gerardo G; North, Kari E KE; Woods, Nancy F NF; Rajkovic, Aleksandar A; Kooperberg, Charles C; Franceschini, Nora N
Publication Date: 2012-03-15

Variant appearance in text: rs236114
PubMed Link: 22131368
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and genomic insights into age at natural menopause.

Genome Medicine
Moron, Francisco Jesus FJ; Ruiz, Agustin A; Galan, Jose Jorge JJ
Publication Date: 2009-08-06

Variant appearance in text: rs236114
PubMed Link: 19664201
Variant Present in the following documents:
  • Main text
  • gm76.pdf
View BVdb publication page



Loci at chromosomes 13, 19 and 20 influence age at natural menopause.

Nature Genetics
Stolk, Lisette L; Zhai, Guangju G; van Meurs, Joyce B J JB; Verbiest, Michael M P J MM; Visser, Jenny A JA; Estrada, Karol K; Rivadeneira, Fernando F; Williams, Frances M FM; Cherkas, Lynn L; Deloukas, Panos P; Soranzo, Nicole N; de Keyzer, Jules J JJ; Pop, Victor J M VJ; Lips, Paul P; Lebrun, Corinne E I CE; van der Schouw, Yvonne T YT; Grobbee, Diederick E DE; Witteman, Jacqueline J; Hofman, Albert A; Pols, Huibert A P HA; Laven, Joop S E JS; Spector, Tim D TD; Uitterlinden, André G AG
Publication Date: 2009-06

Variant appearance in text: rs236114
PubMed Link: 19448619
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.

American Journal Of Human Genetics
Bergmann, C C; Senderek, J J; Anhuf, D D; Thiel, C T CT; Ekici, A B AB; Poblete-Gutierrez, P P; van Steensel, M M; Seelow, D D; Nürnberg, G G; Schild, H H HH; Nürnberg, P P; Reis, A A; Frank, J J; Zerres, K K
Publication Date: 2006-12

Variant appearance in text: rs236114
PubMed Link: 17186469
Variant Present in the following documents:
  • Main text
View BVdb publication page