MYO9B c.1935+16T>C

Variant ID: 19-17283303-T-C

NM_004145.3(MYO9B):c.1935+16T>C

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs2279008
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
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: rs2279008
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: rs2279008
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
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: rs2279008
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Whole‑exome sequencing identifies a novel mutation of SLC20A2 (c.C1849T) as a possible cause of hereditary multiple exostoses in a Chinese family.

Molecular Medicine Reports
Li, Yiqiang Y; Lin, Xuemei X; Zhu, Mingwei M; Li, Jingchun J; Yuan, Zhe Z; Xu, Hongwen H
Publication Date: 2020-09

Variant appearance in text: rs2279008
PubMed Link: 32705272
Variant Present in the following documents:
  • Supplementary_Data1.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: MYO9B: 1935+16T>C; rs2279008
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Genome-wide compound heterozygote analysis highlights alleles associated with adult height in Europeans.

Human Genetics
Zhong, Kaiyin K; Zhu, Gu G; Jing, Xiaoxi X; Hendriks, A Emile J AEJ; Drop, Sten L S SLS; Ikram, M Arfan MA; Gordon, Scott S; Zeng, Changqing C; Uitterlinden, Andre G AG; Martin, Nicholas G NG; Liu, Fan F; Kayser, Manfred M
Publication Date: 2017-11

Variant appearance in text: rs2279008
PubMed Link: 28921393
Variant Present in the following documents:
  • Main text
View BVdb publication page



Papillary renal cell carcinoma: a clinicopathological and whole-genome exon sequencing study.

International Journal Of Clinical And Experimental Pathology
Liu, Kunpeng K; Ren, Yuan Y; Pang, Lijuan L; Qi, Yan Y; Jia, Wei W; Tao, Lin L; Hu, Zhengyan Z; Zhao, Jin J; Zhang, Haijun H; Li, Li L; Yue, Haifeng H; Han, Juan J; Liang, Weihua W; Hu, Jianming J; Zou, Hong H; Yuan, Xianglin X; Li, Feng F
Publication Date: 2015

Variant appearance in text: rs2279008
PubMed Link: 26339402
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide analysis of the genetic regulation of gene expression in human neutrophils.

Nature Communications
Andiappan, Anand Kumar AK; Melchiotti, Rossella R; Poh, Tuang Yeow TY; Nah, Michelle M; Puan, Kia Joo KJ; Vigano, Elena E; Haase, Doreen D; Yusof, Nurhashikin N; San Luis, Boris B; Lum, Josephine J; Kumar, Dilip D; Foo, Shihui S; Zhuang, Li L; Vasudev, Anusha A; Irwanto, Astrid A; Lee, Bernett B; Nardin, Alessandra A; Liu, Hong H; Zhang, Furen F; Connolly, John J; Liu, Jianjun J; Mortellaro, Alessandra A; Wang, De Yun Y; Poidinger, Michael M; Larbi, Anis A; Zolezzi, Francesca F; Rotzschke, Olaf O
Publication Date: 2015-08-10

Variant appearance in text: rs2279008
PubMed Link: 26259071
Variant Present in the following documents:
  • ncomms8971-s1.pdf
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A novel common variant in DCST2 is associated with length in early life and height in adulthood.

Human Molecular Genetics
van der Valk, Ralf J P RJ; Kreiner-Møller, Eskil E; Kooijman, Marjolein N MN; Guxens, Mònica M; Stergiakouli, Evangelia E; Sääf, Annika A; Bradfield, Jonathan P JP; Geller, Frank F; Hayes, M Geoffrey MG; Cousminer, Diana L DL; Körner, Antje A; Thiering, Elisabeth E; Curtin, John A JA; Myhre, Ronny R; Huikari, Ville V; Joro, Raimo R; Kerkhof, Marjan M; Warrington, Nicole M NM; Pitkänen, Niina N; Ntalla, Ioanna I; Horikoshi, Momoko M; Veijola, Riitta R; Freathy, Rachel M RM; Teo, Yik-Ying YY; Barton, Sheila J SJ; Evans, David M DM; Kemp, John P JP; St Pourcain, Beate B; Ring, Susan M SM; Davey Smith, George G; Bergström, Anna A; Kull, Inger I; Hakonarson, Hakon H; Mentch, Frank D FD; Bisgaard, Hans H; Chawes, Bo B; Stokholm, Jakob J; Waage, Johannes J; Eriksen, Patrick P; Sevelsted, Astrid A; Melbye, Mads M; , ; van Duijn, Cornelia M CM; Medina-Gomez, Carolina C; Hofman, Albert A; de Jongste, Johan C JC; Taal, H Rob HR; Uitterlinden, André G AG; , ; Armstrong, Loren L LL; Eriksson, Johan J; Palotie, Aarno A; Bustamante, Mariona M; Estivill, Xavier X; Gonzalez, Juan R JR; Llop, Sabrina S; Kiess, Wieland W; Mahajan, Anubha A; Flexeder, Claudia C; Tiesler, Carla M T CM; Murray, Clare S CS; Simpson, Angela A; Magnus, Per P; Sengpiel, Verena V; Hartikainen, Anna-Liisa AL; Keinanen-Kiukaanniemi, Sirkka S; Lewin, Alexandra A; Da Silva Couto Alves, Alexessander A; Blakemore, Alexandra I AI; Buxton, Jessica L JL; Kaakinen, Marika M; Rodriguez, Alina A; Sebert, Sylvain S; Vaarasmaki, Marja M; Lakka, Timo T; Lindi, Virpi V; Gehring, Ulrike U; Postma, Dirkje S DS; Ang, Wei W; Newnham, John P JP; Lyytikäinen, Leo-Pekka LP; Pahkala, Katja K; Raitakari, Olli T OT; Panoutsopoulou, Kalliope K; Zeggini, Eleftheria E; Boomsma, Dorret I DI; Groen-Blokhuis, Maria M; Ilonen, Jorma J; Franke, Lude L; Hirschhorn, Joel N JN; Pers, Tune H TH; Liang, Liming L; Huang, Jinyan J; Hocher, Berthold B; Knip, Mikael M; Saw, Seang-Mei SM; Holloway, John W JW; Melén, Erik E; Grant, Struan F A SF; Feenstra, Bjarke B; Lowe, William L WL; Widén, Elisabeth E; Sergeyev, Elena E; Grallert, Harald H; Custovic, Adnan A; Jacobsson, Bo B; Jarvelin, Marjo-Riitta MR; Atalay, Mustafa M; Koppelman, Gerard H GH; Pennell, Craig E CE; Niinikoski, Harri H; Dedoussis, George V GV; Mccarthy, Mark I MI; Frayling, Timothy M TM; Sunyer, Jordi J; Timpson, Nicholas J NJ; Rivadeneira, Fernando F; Bønnelykke, Klaus K; Jaddoe, Vincent W V VW; ,
Publication Date: 2015-02-15

Variant appearance in text: rs2279008
PubMed Link: 25281659
Variant Present in the following documents:
  • supp_ddu510_ddu510supp.pdf
View BVdb publication page



Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.

Diabetes
Chen, Peng P; Takeuchi, Fumihiko F; Lee, Jong-Young JY; Li, Huaixing H; Wu, Jer-Yuarn JY; Liang, Jun J; Long, Jirong J; Tabara, Yasuharu Y; Goodarzi, Mark O MO; Pereira, Mark A MA; Kim, Young Jin YJ; Go, Min Jin MJ; Stram, Daniel O DO; Vithana, Eranga E; Khor, Chiea-Chuen CC; Liu, Jianjun J; Liao, Jiemin J; Ye, Xingwang X; Wang, Yiqin Y; Lu, Ling L; Young, Terri L TL; Lee, Jeannette J; Thai, Ah Chuan AC; Cheng, Ching-Yu CY; van Dam, Rob M RM; Friedlander, Yechiel Y; Heng, Chew-Kiat CK; Koh, Woon-Puay WP; Chen, Chien-Hsiun CH; Chang, Li-Ching LC; Pan, Wen-Harn WH; Qi, Qibin Q; Isono, Masato M; Zheng, Wei W; Cai, Qiuyin Q; Gao, Yutang Y; Yamamoto, Ken K; Ohnaka, Keizo K; Takayanagi, Ryoichi R; Kita, Yoshikuni Y; Ueshima, Hirotsugu H; Hsiung, Chao A CA; Cui, Jinrui J; Sheu, Wayne H-H WH; Rotter, Jerome I JI; Chen, Yii-Der I YD; Hsu, Chris C; Okada, Yukinori Y; Kubo, Michiaki M; Takahashi, Atsushi A; Tanaka, Toshihiro T; van Rooij, Frank J A FJ; Ganesh, Santhi K SK; Huang, Jinyan J; Huang, Tao T; Yuan, Jianmin J; Hwang, Joo-Yeon JY; , ; Gross, Myron D MD; Assimes, Themistocles L TL; Miki, Tetsuro T; Shu, Xiao-Ou XO; Qi, Lu L; Chen, Yuan-Tson YT; Lin, Xu X; Aung, Tin T; Wong, Tien-Yin TY; Teo, Yik-Ying YY; Kim, Bong-Jo BJ; Kato, Norihiro N; Tai, E-Shyong ES
Publication Date: 2014-07

Variant appearance in text: rs2279008
PubMed Link: 24647736
Variant Present in the following documents:
  • Main text
  • 2551.pdf
View BVdb publication page



Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

Nature Genetics
Soler Artigas, María M; Loth, Daan W DW; Wain, Louise V LV; Gharib, Sina A SA; Obeidat, Ma'en M; Tang, Wenbo W; Zhai, Guangju G; Zhao, Jing Hua JH; Smith, Albert Vernon AV; Huffman, Jennifer E JE; Albrecht, Eva E; Jackson, Catherine M CM; Evans, David M DM; Cadby, Gemma G; Fornage, Myriam M; Manichaikul, Ani A; Lopez, Lorna M LM; Johnson, Toby T; Aldrich, Melinda C MC; Aspelund, Thor T; Barroso, Inês I; Campbell, Harry H; Cassano, Patricia A PA; Couper, David J DJ; Eiriksdottir, Gudny G; Franceschini, Nora N; Garcia, Melissa M; Gieger, Christian C; Gislason, Gauti Kjartan GK; Grkovic, Ivica I; Hammond, Christopher J CJ; Hancock, Dana B DB; Harris, Tamara B TB; Ramasamy, Adaikalavan A; Heckbert, Susan R SR; Heliövaara, Markku M; Homuth, Georg G; Hysi, Pirro G PG; James, Alan L AL; Jankovic, Stipan S; Joubert, Bonnie R BR; Karrasch, Stefan S; Klopp, Norman N; Koch, Beate B; Kritchevsky, Stephen B SB; Launer, Lenore J LJ; Liu, Yongmei Y; Loehr, Laura R LR; Lohman, Kurt K; Loos, Ruth J F RJ; Lumley, Thomas T; Al Balushi, Khalid A KA; Ang, Wei Q WQ; Barr, R Graham RG; Beilby, John J; Blakey, John D JD; Boban, Mladen M; Boraska, Vesna V; Brisman, Jonas J; Britton, John R JR; Brusselle, Guy G GG; Cooper, Cyrus C; Curjuric, Ivan I; Dahgam, Santosh S; Deary, Ian J IJ; Ebrahim, Shah S; Eijgelsheim, Mark M; Francks, Clyde C; Gaysina, Darya D; Granell, Raquel R; Gu, Xiangjun X; Hankinson, John L JL; Hardy, Rebecca R; Harris, Sarah E SE; Henderson, John J; Henry, Amanda A; Hingorani, Aroon D AD; Hofman, Albert A; Holt, Patrick G PG; Hui, Jennie J; Hunter, Michael L ML; Imboden, Medea M; Jameson, Karen A KA; Kerr, Shona M SM; Kolcic, Ivana I; Kronenberg, Florian F; Liu, Jason Z JZ; Marchini, Jonathan J; McKeever, Tricia T; Morris, Andrew D AD; Olin, Anna-Carin AC; Porteous, David J DJ; Postma, Dirkje S DS; Rich, Stephen S SS; Ring, Susan M SM; Rivadeneira, Fernando F; Rochat, Thierry T; Sayer, Avan Aihie AA; Sayers, Ian I; Sly, Peter D PD; Smith, George Davey GD; Sood, Akshay A; Starr, John M JM; Uitterlinden, André G AG; Vonk, Judith M JM; Wannamethee, S Goya SG; Whincup, Peter H PH; Wijmenga, Cisca C; Williams, O Dale OD; Wong, Andrew A; Mangino, Massimo M; Marciante, Kristin D KD; McArdle, Wendy L WL; Meibohm, Bernd B; Morrison, Alanna C AC; North, Kari E KE; Omenaas, Ernst E; Palmer, Lyle J LJ; Pietiläinen, Kirsi H KH; Pin, Isabelle I; Pola Sbreve Ek, Ozren O; Pouta, Anneli A; Psaty, Bruce M BM; Hartikainen, Anna-Liisa AL; Rantanen, Taina T; Ripatti, Samuli S; Rotter, Jerome I JI; Rudan, Igor I; Rudnicka, Alicja R AR; Schulz, Holger H; Shin, So-Youn SY; Spector, Tim D TD; Surakka, Ida I; Vitart, Veronique V; Völzke, Henry H; Wareham, Nicholas J NJ; Warrington, Nicole M NM; Wichmann, H-Erich HE; Wild, Sarah H SH; Wilk, Jemma B JB; Wjst, Matthias M; Wright, Alan F AF; Zgaga, Lina L; Zemunik, Tatijana T; Pennell, Craig E CE; Nyberg, Fredrik F; Kuh, Diana D; Holloway, John W JW; Boezen, H Marike HM; Lawlor, Debbie A DA; Morris, Richard W RW; Probst-Hensch, Nicole N; , ; , ; Kaprio, Jaakko J; Wilson, James F JF; Hayward, Caroline C; Kähönen, Mika M; Heinrich, Joachim J; Musk, Arthur W AW; Jarvis, Deborah L DL; Gläser, Sven S; Järvelin, Marjo-Riitta MR; Ch Stricker, Bruno H BH; Elliott, Paul P; O'Connor, George T GT; Strachan, David P DP; London, Stephanie J SJ; Hall, Ian P IP; Gudnason, Vilmundur V; Tobin, Martin D MD
Publication Date: 2011-09-25

Variant appearance in text: rs2279008
PubMed Link: 21946350
Variant Present in the following documents:
  • NIHMS335195-supplement-4.pdf
View BVdb publication page