HPS1 c.*452G>A

Variant ID: 10-100176869-C-T

NM_000195.3(HPS1):c.*452G>A

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs701801
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.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: rs701801
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: rs701801
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Epigenome-wide association in adipose tissue from the METSIM cohort.

Human Molecular Genetics
Orozco, Luz D LD; Farrell, Colin C; Hale, Christopher C; Rubbi, Liudmilla L; Rinaldi, Arturo A; Civelek, Mete M; Pan, Calvin C; Lam, Larry L; Montoya, Dennis D; Edillor, Chantle C; Seldin, Marcus M; Boehnke, Michael M; Mohlke, Karen L KL; Jacobsen, Steve S; Kuusisto, Johanna J; Laakso, Markku M; Lusis, Aldons J AJ; Pellegrini, Matteo M
Publication Date: 2018-05-15

Variant appearance in text: rs701801
PubMed Link: 29566149
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exploring genetic associations with ceRNA regulation in the human genome.

Nucleic Acids Research
Li, Mulin Jun MJ; Zhang, Jian J; Liang, Qian Q; Xuan, Chenghao C; Wu, Jiexing J; Jiang, Peng P; Li, Wei W; Zhu, Yun Y; Wang, Panwen P; Fernandez, Daniel D; Shen, Yujun Y; Chen, Yiwen Y; Kocher, Jean-Pierre A JA; Yu, Ying Y; Sham, Pak Chung PC; Wang, Junwen J; Liu, Jun S JS; Liu, X Shirley XS
Publication Date: 2017-06-02

Variant appearance in text: rs701801
PubMed Link: 28472449
Variant Present in the following documents:
  • Main text
  • gkx331.pdf
View BVdb publication page



A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study.

Bmc Medical Genetics
Hwang, Shih-Jen SJ; Yang, Qiong Q; Meigs, James B JB; Pearce, Elizabeth N EN; Fox, Caroline S CS
Publication Date: 2007-09-19

Variant appearance in text: rs701801
PubMed Link: 17903292
Variant Present in the following documents:
  • Main text
  • 1471-2350-8-S1-S10.pdf
View BVdb publication page