RHCE c.122A>G ;(p.Q41R)

Variant ID: 1-25747156-T-C

NM_020485.4(RHCE):c.122A>G;(p.Q41R)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Molecular Blood Group Screening in Donors from Arabian Countries and Iran Using High-Throughput MALDI-TOF Mass Spectrometry and PCR-SSP.

Transfusion Medicine And Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie
Flesch, Brigitte Katharina BK; Scherer, Vanessa V; Just, Burkhard B; Opitz, Andreas A; Ochmann, Oswin O; Janson, Anne A; Steitz, Monika M; Zeiler, Thomas T
Publication Date: 2020-10

Variant appearance in text: RHCE: 122A>G; rs138268848
PubMed Link: 33173458
Variant Present in the following documents:
  • Main text
View BVdb publication page



Next-Generation Sequencing Technologies in Blood Group Typing.

Transfusion Medicine And Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie
Fürst, Daniel D; Tsamadou, Chrysanthi C; Neuchel, Christine C; Schrezenmeier, Hubert H; Mytilineos, Joannis J; Weinstock, Christof C
Publication Date: 2020-02

Variant appearance in text: RHCE: 122A>G; Gln41Arg; rs138268848
PubMed Link: 32110189
Variant Present in the following documents:
  • Main text
View BVdb publication page



Validated Reference Panel from Renewable Source of Genomic DNA Available for Standardization of Blood Group Genotyping.

The Journal Of Molecular Diagnostics : Jmd
Volkova, Evgeniya E; Sippert, Emilia E; Liu, Meihong M; Mercado, Teresita T; Denomme, Gregory A GA; Illoh, Orieji O; Liu, Zhugong Z; Rios, Maria M; ,
Publication Date: 2019-05

Variant appearance in text: RHCE: 122A>G
PubMed Link: 30872185
Variant Present in the following documents:
  • Main text
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: RHCE: Gln41Arg
PubMed Link: 30421425
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular study of Cw /Cx antigens and frequency of Rh phenotypes in southeast Brazilian blood donors.

Journal Of Clinical Laboratory Analysis
Costa, Sidneia S SS; Souza Silva, Thamy C TC; Chiba, Akemi Kuroda AK; Cruz, Bruno R BR; Langhi Junior, Dante Mário DM; Bordin, José O JO
Publication Date: 2018-10

Variant appearance in text: RHCE: Gln41Arg
PubMed Link: 29926983
Variant Present in the following documents:
  • Main text
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: RHCE: Q41R; rs138268848
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: RHCE: Q41R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 3
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: RHCE: Q41R; rs138268848
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: RHCE: Q41R
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-9.xlsx, sheet 1
View BVdb publication page



RhCE protein variants in Southwestern Germany detected by serologic routine testing.

Transfusion
Bugert, Peter P; Scharberg, Erwin A EA; Geisen, Christof C; von Zabern, Inge I; Flegel, Willy A WA
Publication Date: 2009-09

Variant appearance in text: RHCE: Q41R
PubMed Link: 19453980
Variant Present in the following documents:
  • Main text
View BVdb publication page