ADAMTSL3 c.1701-1262A>C

Variant ID: 15-84580582-A-C

NM_207517.2(ADAMTSL3):c.1701-1262A>C

This variant was identified in 5 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: rs11259936
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Association of human height-related genetic variants with familial short stature in Han Chinese in Taiwan.

Scientific Reports
Lin, Ying-Ju YJ; Liao, Wen-Ling WL; Wang, Chung-Hsing CH; Tsai, Li-Ping LP; Tang, Chih-Hsin CH; Chen, Chien-Hsiun CH; Wu, Jer-Yuarn JY; Liang, Wen-Miin WM; Hsieh, Ai-Ru AR; Cheng, Chi-Fung CF; Chen, Jin-Hua JH; Chien, Wen-Kuei WK; Lin, Ting-Hsu TH; Wu, Chia-Ming CM; Liao, Chiu-Chu CC; Huang, Shao-Mei SM; Tsai, Fuu-Jen FJ
Publication Date: 2017-07-25

Variant appearance in text: rs11259936
PubMed Link: 28744006
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_6766.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: rs11259936
PubMed Link: 25281659
Variant Present in the following documents:
  • supp_ddu510_ddu510supp.pdf
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Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits.

Nature Genetics
Yang, Jian J; Ferreira, Teresa T; Morris, Andrew P AP; Medland, Sarah E SE; , ; , ; Madden, Pamela A F PA; Heath, Andrew C AC; Martin, Nicholas G NG; Montgomery, Grant W GW; Weedon, Michael N MN; Loos, Ruth J RJ; Frayling, Timothy M TM; McCarthy, Mark I MI; Hirschhorn, Joel N JN; Goddard, Michael E ME; Visscher, Peter M PM
Publication Date: 2012-03-18

Variant appearance in text: rs11259936
PubMed Link: 22426310
Variant Present in the following documents:
  • Main text
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Adult height variants affect birth length and growth rate in children.

Human Molecular Genetics
Paternoster, Lavinia L; Howe, Laura D LD; Tilling, Kate K; Weedon, Michael N MN; Freathy, Rachel M RM; Frayling, Timothy M TM; Kemp, John P JP; Smith, George Davey GD; Timpson, Nicholas J NJ; Ring, Susan M SM; Evans, David M DM; Lawlor, Debbie A DA
Publication Date: 2011-10-15

Variant appearance in text: rs11259936
PubMed Link: 21757498
Variant Present in the following documents:
  • Main text
  • ddr309.pdf
View BVdb publication page