HPS1 c.-51C>A

Variant ID: 10-100205107-G-T

NM_000195.5(HPS1):c.-51C>A

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: HPS1: -51C>A; rs1804689
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
View BVdb publication page



Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders
Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M
Publication Date: 2020-02-11

Variant appearance in text: HPS1: -51C>A; rs1804689
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: HPS1: -51C>A; rs1804689
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs1804689
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget
Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S
Publication Date: 2015-06-20

Variant appearance in text: rs1804689
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
View BVdb publication page



Associations between incident ischemic stroke events and stroke and cardiovascular disease-related genome-wide association studies single nucleotide polymorphisms in the Population Architecture Using Genomics and Epidemiology study.

Circulation. Cardiovascular Genetics
Carty, Cara L CL; Buzková, Petra P; Fornage, Myriam M; Franceschini, Nora N; Cole, Shelley S; Heiss, Gerardo G; Hindorff, Lucia A LA; Howard, Barbara V BV; Mann, Sue S; Martin, Lisa W LW; Zhang, Ying Y; Matise, Tara C TC; Prentice, Ross R; Reiner, Alexander P AP; Kooperberg, Charles C
Publication Date: 2012-04-01

Variant appearance in text: rs1804689
PubMed Link: 22403240
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predicting phenotype from genotype: normal pigmentation.

Journal Of Forensic Sciences
Valenzuela, Robert K RK; Henderson, Miquia S MS; Walsh, Monica H MH; Garrison, Nanibaa' A NA; Kelch, Jessica T JT; Cohen-Barak, Orit O; Erickson, Drew T DT; John Meaney, F F; Bruce Walsh, J J; Cheng, Keith C KC; Ito, Shosuke S; Wakamatsu, Kazumasa K; Frudakis, Tony T; Thomas, Matthew M; Brilliant, Murray H MH
Publication Date: 2010-03-01

Variant appearance in text: rs1804689
PubMed Link: 20158590
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene variants associated with ischemic stroke: the cardiovascular health study.

Stroke
Luke, May M MM; O'Meara, Ellen S ES; Rowland, Charles M CM; Shiffman, Dov D; Bare, Lance A LA; Arellano, Andre R AR; Longstreth, W T WT; Lumley, Thomas T; Rice, Kenneth K; Tracy, Russell P RP; Devlin, James J JJ; Psaty, Bruce M BM
Publication Date: 2009-02

Variant appearance in text: rs1804689
PubMed Link: 19023099
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.

Arteriosclerosis, Thrombosis, And Vascular Biology
Shiffman, Dov D; O'Meara, Ellen S ES; Bare, Lance A LA; Rowland, Charles M CM; Louie, Judy Z JZ; Arellano, Andre R AR; Lumley, Thomas T; Rice, Kenneth K; Iakoubova, Olga O; Luke, May M MM; Young, Bradford A BA; Malloy, Mary J MJ; Kane, John P JP; Ellis, Stephen G SG; Tracy, Russell P RP; Devlin, James J JJ; Psaty, Bruce M BM
Publication Date: 2008-01

Variant appearance in text: rs1804689
PubMed Link: 17975119
Variant Present in the following documents:
  • Main text
View BVdb publication page