BCAM c.1495C>T ;(p.R499W)

Variant ID: 19-45322624-C-T

NM_005581.4(BCAM):c.1495C>T;(p.R499W)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Gallbladder adenocarcinomas undergo subclonal diversification and selection from precancerous lesions to metastatic tumors.

Elife
Kang, Minsu M; Na, Hee Young HY; Ahn, Soomin S; Kim, Ji-Won JW; Lee, Sejoon S; Ahn, Soyeon S; Lee, Ju Hyun JH; Youk, Jeonghwan J; Kim, Haesook T HT; Kim, Kui-Jin KJ; Suh, Koung Jin KJ; Lee, Jun Suh JS; Kim, Se Hyun SH; Kim, Jin Won JW; Kim, Yu Jung YJ; Lee, Keun-Wook KW; Yoon, Yoo-Seok YS; Kim, Jee Hyun JH; Chung, Jin-Haeng JH; Han, Ho-Seong HS; Lee, Jong Seok JS
Publication Date: 2022-12-08

Variant appearance in text: BCAM: R499W
PubMed Link: 36476508
Variant Present in the following documents:
  • elife-78636-supp2.xlsx, sheet 2
View BVdb publication page



International Society of Blood Transfusion Working Party on Red Cell Immunogenetics and Blood Group Terminology: Report of the Dubai, Copenhagen and Toronto meetings.

Vox Sanguinis
Storry, Jill R JR; Clausen, Frederik Banch FB; Castilho, Lilian L; Chen, Qing Q; Daniels, Geoff G; Denomme, Greg G; Flegel, Willy A WA; Gassner, Christoph C; de Haas, Masja M; Hyland, Catherine C; Yanli, Ji J; Keller, Margaret M; Lomas-Francis, Christine C; Nogues, Nuria N; Olsson, Martin L ML; Peyrard, Thierry T; van der Schoot, Ellen E; Tani, Yoshihiko Y; Thornton, Nicole N; Wagner, Franz F; Weinstock, Christoph C; Wendel, Silvano S; Westhoff, Connie C; Yahalom, Vered V
Publication Date: 2019-01

Variant appearance in text: BCAM: 1495C>T; Arg499Trp
PubMed Link: 30421425
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic coordinates and continental distribution of 120 blood group variants reported by the 1000 Genomes Project.

Transfusion
Montemayor-Garcia, Celina C; Karagianni, Panagiota P; Stiles, David A DA; Reese, Erika M EM; Smellie, Danielle A DA; Loy, Debrean A DA; Levy, Kimberly Y KY; Nwokocha, Magdalene M; Bueno, Marina U MU; Miller, Jeffery L JL; Klein, Harvey G HG
Publication Date: 2018-11

Variant appearance in text: BCAM: 1495C>T
PubMed Link: 30312480
Variant Present in the following documents:
  • Main text
View BVdb publication page



Extended Donor Typing by Pooled Capillary Electrophoresis: Impact in a Routine Setting.

Transfusion Medicine And Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie
Wagner, Franz F FF; Doescher, Andrea A; Bittner, Rita R; Müller, Thomas H TH
Publication Date: 2018-07

Variant appearance in text: rs148391498
PubMed Link: 30283272
Variant Present in the following documents:
  • Main text
View BVdb publication page



A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A
Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA
Publication Date: 2014

Variant appearance in text: BCAM: R499W; rs148391498
PubMed Link: 25469153
Variant Present in the following documents:
  • 12979_2014_19_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: BCAM: R499W
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-9.xlsx, sheet 1
View BVdb publication page



Meta-analysis of gene-level tests for rare variant association.

Nature Genetics
Liu, Dajiang J DJ; Peloso, Gina M GM; Zhan, Xiaowei X; Holmen, Oddgeir L OL; Zawistowski, Matthew M; Feng, Shuang S; Nikpay, Majid M; Auer, Paul L PL; Goel, Anuj A; Zhang, He H; Peters, Ulrike U; Farrall, Martin M; Orho-Melander, Marju M; Kooperberg, Charles C; McPherson, Ruth R; Watkins, Hugh H; Willer, Cristen J CJ; Hveem, Kristian K; Melander, Olle O; Kathiresan, Sekar S; Abecasis, Gonçalo R GR
Publication Date: 2014-02

Variant appearance in text: rs148391498
PubMed Link: 24336170
Variant Present in the following documents:
  • NIHMS543085-supplement-1.pdf
View BVdb publication page