SLC12A3 c.1925+72C>G

Variant ID: 16-56919348-C-G

NM_001126108.1(SLC12A3):c.1925+72C>G

This variant was identified in 7 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: rs12596776
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
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: SLC12A3: 1925+72C>G; rs12596776
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, 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: rs12596776
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Shared ancestral susceptibility to colorectal cancer and other nutrition related diseases.

Bmc Medical Genetics
Huhn, Stefanie S; Bevier, Melanie M; Rudolph, Anja A; Pardini, Barbara B; Naccarati, Alessio A; Hein, Rebecca R; Hoffmeister, Michael M; Vodickova, Ludmila L; Novotny, Jan J; Brenner, Hermann H; Chang-Claude, Jenny J; Hemminki, Kari K; Vodicka, Pavel P; Försti, Asta A
Publication Date: 2012-10-05

Variant appearance in text: rs12596776
PubMed Link: 23036011
Variant Present in the following documents:
  • 1471-2350-13-94-S1.pdf
View BVdb publication page



Validation of candidate genes associated with cardiovascular risk factors in psychiatric patients.

Progress In Neuro-Psychopharmacology & Biological Psychiatry
Windemuth, Andreas A; de Leon, Jose J; Goethe, John W JW; Schwartz, Harold I HI; Woolley, Stephen S; Susce, Margaret M; Kocherla, Mohan M; Bogaard, Kali K; Holford, Theodore R TR; Seip, Richard L RL; Ruaño, Gualberto G
Publication Date: 2012-03-30

Variant appearance in text: rs12596776
PubMed Link: 21851846
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic determinants of lipid traits in diverse populations from the population architecture using genomics and epidemiology (PAGE) study.

Plos Genetics
Dumitrescu, Logan L; Carty, Cara L CL; Taylor, Kira K; Schumacher, Fredrick R FR; Hindorff, Lucia A LA; Ambite, José L JL; Anderson, Garnet G; Best, Lyle G LG; Brown-Gentry, Kristin K; Bůžková, Petra P; Carlson, Christopher S CS; Cochran, Barbara B; Cole, Shelley A SA; Devereux, Richard B RB; Duggan, Dave D; Eaton, Charles B CB; Fornage, Myriam M; Franceschini, Nora N; Haessler, Jeff J; Howard, Barbara V BV; Johnson, Karen C KC; Laston, Sandra S; Kolonel, Laurence N LN; Lee, Elisa T ET; MacCluer, Jean W JW; Manolio, Teri A TA; Pendergrass, Sarah A SA; Quibrera, Miguel M; Shohet, Ralph V RV; Wilkens, Lynne R LR; Haiman, Christopher A CA; Le Marchand, Loïc L; Buyske, Steven S; Kooperberg, Charles C; North, Kari E KE; Crawford, Dana C DC
Publication Date: 2011-06

Variant appearance in text: rs12596776
PubMed Link: 21738485
Variant Present in the following documents:
  • Main text
  • pgen.1002138.pdf
View BVdb publication page



Newly identified loci that influence lipid concentrations and risk of coronary artery disease.

Nature Genetics
Willer, Cristen J CJ; Sanna, Serena S; Jackson, Anne U AU; Scuteri, Angelo A; Bonnycastle, Lori L LL; Clarke, Robert R; Heath, Simon C SC; Timpson, Nicholas J NJ; Najjar, Samer S SS; Stringham, Heather M HM; Strait, James J; Duren, William L WL; Maschio, Andrea A; Busonero, Fabio F; Mulas, Antonella A; Albai, Giuseppe G; Swift, Amy J AJ; Morken, Mario A MA; Narisu, Narisu N; Bennett, Derrick D; Parish, Sarah S; Shen, Haiqing H; Galan, Pilar P; Meneton, Pierre P; Hercberg, Serge S; Zelenika, Diana D; Chen, Wei-Min WM; Li, Yun Y; Scott, Laura J LJ; Scheet, Paul A PA; Sundvall, Jouko J; Watanabe, Richard M RM; Nagaraja, Ramaiah R; Ebrahim, Shah S; Lawlor, Debbie A DA; Ben-Shlomo, Yoav Y; Davey-Smith, George G; Shuldiner, Alan R AR; Collins, Rory R; Bergman, Richard N RN; Uda, Manuela M; Tuomilehto, Jaakko J; Cao, Antonio A; Collins, Francis S FS; Lakatta, Edward E; Lathrop, G Mark GM; Boehnke, Michael M; Schlessinger, David D; Mohlke, Karen L KL; Abecasis, Gonçalo R GR
Publication Date: 2008-02

Variant appearance in text: rs12596776
PubMed Link: 18193043
Variant Present in the following documents:
  • Main text
View BVdb publication page