LPA c.4072C>A ;(p.L1358I)

Variant ID: 6-161007538-G-T

NM_005577.2(LPA):c.4072C>A;(p.L1358I)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs7765803
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The rs10455872-G allele of the LPA gene is associated with high lipoprotein(a) levels and increased aortic valve calcium in a Mexican adult population.

Genetics And Molecular Biology
Cardoso-Saldaña, Guillermo G; Fragoso, José Manuel JM; Lale-Farjat, Shamar S; Torres-Tamayo, Margarita M; Posadas-Romero, Carlos C; Vargas-Alarcón, Gilberto G; Posadas-Sánchez, Rosalinda R
Publication Date: 2019

Variant appearance in text: rs7765803
PubMed Link: 31188921
Variant Present in the following documents:
  • Main text
  • 1415-4757-GMB-42-3-2017-0371.pdf
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs7765803
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Genetic variants in SLC22A3 contribute to the susceptibility to colorectal cancer.

International Journal Of Cancer
Ren, Anjing A; Sun, Shanwen S; Li, Shuwei S; Chen, Tao T; Shu, Yongqian Y; Du, Mulong M; Zhu, Lingjun L
Publication Date: 2019-07-01

Variant appearance in text: rs7765803
PubMed Link: 30561001
Variant Present in the following documents:
  • Main text
  • IJC-145-154.pdf
View BVdb publication page



Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology
Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H
Publication Date: 2018-11-29

Variant appearance in text: rs7765803
PubMed Link: 30497413
Variant Present in the following documents:
  • 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs7765803
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs7765803
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Low LDL cholesterol, PCSK9 and HMGCR genetic variation, and risk of Alzheimer's disease and Parkinson's disease: Mendelian randomisation study.

Bmj (Clinical Research Ed.)
Benn, Marianne M; Nordestgaard, Børge G BG; Frikke-Schmidt, Ruth R; Tybjærg-Hansen, Anne A
Publication Date: 2017-04-24

Variant appearance in text: rs7765803
PubMed Link: 28438747
Variant Present in the following documents:
  • benm033277.ww1.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs7765803
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs7765803
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing.

Bmc Genomics
Ramos, Enrique E; Levinson, Benjamin T BT; Chasnoff, Sara S; Hughes, Andrew A; Young, Andrew L AL; Thornton, Katherine K; Li, Allie A; Vallania, Francesco L M FL; Province, Michael M; Druley, Todd E TE
Publication Date: 2012-12-06

Variant appearance in text: rs7765803
PubMed Link: 23216810
Variant Present in the following documents:
  • 1471-2164-13-683-S1.pdf
View BVdb publication page



Variation in LPA is associated with Lp(a) levels in three populations from the Third National Health and Nutrition Examination Survey.

Plos One
Dumitrescu, Logan L; Glenn, Kimberly K; Brown-Gentry, Kristin K; Shephard, Cynthia C; Wong, Michelle M; Rieder, Mark J MJ; Smith, Joshua D JD; Nickerson, Deborah A DA; Crawford, Dana C DC
Publication Date: 2011-01-28

Variant appearance in text: rs7765803
PubMed Link: 21305047
Variant Present in the following documents:
  • Main text
  • pone.0016604.pdf
View BVdb publication page



LPA and PLG sequence variation and kringle IV-2 copy number in two populations.

Human Heredity
Crawford, Dana C DC; Peng, Ze Z; Cheng, Jan-Fang JF; Boffelli, Dario D; Ahearn, Magdalena M; Nguyen, Dan D; Shaffer, Tristan T; Yi, Qian Q; Livingston, Robert J RJ; Rieder, Mark J MJ; Nickerson, Deborah A DA
Publication Date: 2008

Variant appearance in text: rs7765803
PubMed Link: 18612205
Variant Present in the following documents:
  • Main text
View BVdb publication page