ATP11A c.*10-241G>C

Variant ID: 13-113535949-G-C

NM_015205.3(ATP11A):c.*10-241G>C

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: rs1278768
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
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Somatic Mutation Profiling of Papillary Thyroid Carcinomas by Whole-exome Sequencing and Its Relationship with Clinical Characteristics.

International Journal Of Medical Sciences
Qi, Tingyue T; Rong, Xin X; Feng, Qingling Q; Sun, Hongguang H; Cao, Haiyan H; Yang, Yan Y; Feng, Hao H; Zhu, Linhai L; Wang, Lei L; Du, Qiu Q
Publication Date: 2021

Variant appearance in text: rs1278768
PubMed Link: 34104084
Variant Present in the following documents:
  • ijmsv18p2532s2.xlsx, sheet 1
View BVdb publication page



Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.

Nature Genetics
Landi, Maria Teresa MT; Bishop, D Timothy DT; MacGregor, Stuart S; Machiela, Mitchell J MJ; Stratigos, Alexander J AJ; Ghiorzo, Paola P; Brossard, Myriam M; Calista, Donato D; Choi, Jiyeon J; Fargnoli, Maria Concetta MC; Zhang, Tongwu T; Rodolfo, Monica M; Trower, Adam J AJ; Menin, Chiara C; Martinez, Jacobo J; Hadjisavvas, Andreas A; Song, Lei L; Stefanaki, Irene I; Scolyer, Richard R; Yang, Rose R; Goldstein, Alisa M AM; Potrony, Miriam M; Kypreou, Katerina P KP; Pastorino, Lorenza L; Queirolo, Paola P; Pellegrini, Cristina C; Cattaneo, Laura L; Zawistowski, Matthew M; Gimenez-Xavier, Pol P; Rodriguez, Arantxa A; Elefanti, Lisa L; Manoukian, Siranoush S; Rivoltini, Licia L; Smith, Blair H BH; Loizidou, Maria A MA; Del Regno, Laura L; Massi, Daniela D; Mandala, Mario M; Khosrotehrani, Kiarash K; Akslen, Lars A LA; Amos, Christopher I CI; Andresen, Per A PA; Avril, Marie-Françoise MF; Azizi, Esther E; Soyer, H Peter HP; Bataille, Veronique V; Dalmasso, Bruna B; Bowdler, Lisa M LM; Burdon, Kathryn P KP; Chen, Wei V WV; Codd, Veryan V; Craig, Jamie E JE; Dębniak, Tadeusz T; Falchi, Mario M; Fang, Shenying S; Friedman, Eitan E; Simi, Sarah S; Galan, Pilar P; Garcia-Casado, Zaida Z; Gillanders, Elizabeth M EM; Gordon, Scott S; Green, Adele A; Gruis, Nelleke A NA; Hansson, Johan J; Harland, Mark M; Harris, Jessica J; Helsing, Per P; Henders, Anjali A; Hočevar, Marko M; Höiom, Veronica V; Hunter, David D; Ingvar, Christian C; Kumar, Rajiv R; Lang, Julie J; Lathrop, G Mark GM; Lee, Jeffrey E JE; Li, Xin X; Lubiński, Jan J; Mackie, Rona M RM; Malt, Maryrose M; Malvehy, Josep J; McAloney, Kerrie K; Mohamdi, Hamida H; Molven, Anders A; Moses, Eric K EK; Neale, Rachel E RE; Novaković, Srdjan S; Nyholt, Dale R DR; Olsson, Håkan H; Orr, Nicholas N; Fritsche, Lars G LG; Puig-Butille, Joan Anton JA; Qureshi, Abrar A AA; Radford-Smith, Graham L GL; Randerson-Moor, Juliette J; Requena, Celia C; Rowe, Casey C; Samani, Nilesh J NJ; Sanna, Marianna M; Schadendorf, Dirk D; Schulze, Hans-Joachim HJ; Simms, Lisa A LA; Smithers, Mark M; Song, Fengju F; Swerdlow, Anthony J AJ; van der Stoep, Nienke N; Kukutsch, Nicole A NA; Visconti, Alessia A; Wallace, Leanne L; Ward, Sarah V SV; Wheeler, Lawrie L; Sturm, Richard A RA; Hutchinson, Amy A; Jones, Kristine K; Malasky, Michael M; Vogt, Aurelie A; Zhou, Weiyin W; Pooley, Karen A KA; Elder, David E DE; Han, Jiali J; Hicks, Belynda B; Hayward, Nicholas K NK; Kanetsky, Peter A PA; Brummett, Chad C; Montgomery, Grant W GW; Olsen, Catherine M CM; Hayward, Caroline C; Dunning, Alison M AM; Martin, Nicholas G NG; Evangelou, Evangelos E; Mann, Graham J GJ; Long, Georgina G; Pharoah, Paul D P PDP; Easton, Douglas F DF; Barrett, Jennifer H JH; Cust, Anne E AE; Abecasis, Goncalo G; Duffy, David L DL; Whiteman, David C DC; Gogas, Helen H; De Nicolo, Arcangela A; Tucker, Margaret A MA; Newton-Bishop, Julia A JA; , ; , ; , ; , ; , ; , ; , ; , ; , ; Peris, Ketty K; Chanock, Stephen J SJ; Demenais, Florence F; Brown, Kevin M KM; Puig, Susana S; Nagore, Eduardo E; Shi, Jianxin J; Iles, Mark M MM; Law, Matthew H MH
Publication Date: 2020-05

Variant appearance in text: rs1278768
PubMed Link: 32341527
Variant Present in the following documents:
  • Main text
  • NIHMS1574209-supplement-2.xlsx, sheet 3
  • NIHMS1574209-supplement-2.xlsx, sheet 9
  • nihms-1574209.pdf
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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: rs1278768
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
View BVdb publication page