LCAT c.340G>C ;(p.V114L)

Variant ID: 16-67976851-C-G

NM_000229.1(LCAT):c.340G>C;(p.V114L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: N/A
PubMed Link: 36413997
Variant Present in the following documents:
View BVdb publication page



Minority-centric meta-analyses of blood lipid levels identify novel loci in the Population Architecture using Genomics and Epidemiology (PAGE) study.

Plos Genetics
Hu, Yao Y; Graff, Mariaelisa M; Haessler, Jeffrey J; Buyske, Steven S; Bien, Stephanie A SA; Tao, Ran R; Highland, Heather M HM; Nishimura, Katherine K KK; Zubair, Niha N; Lu, Yingchang Y; Verbanck, Marie M; Hilliard, Austin T AT; Klarin, Derek D; Damrauer, Scott M SM; Ho, Yuk-Lam YL; , ; Wilson, Peter W F PWF; Chang, Kyong-Mi KM; Tsao, Philip S PS; Cho, Kelly K; O'Donnell, Christopher J CJ; Assimes, Themistocles L TL; Petty, Lauren E LE; Below, Jennifer E JE; Dikilitas, Ozan O; Schaid, Daniel J DJ; Kosel, Matthew L ML; Kullo, Iftikhar J IJ; Rasmussen-Torvik, Laura J LJ; Jarvik, Gail P GP; Feng, Qiping Q; Wei, Wei-Qi WQ; Larson, Eric B EB; Mentch, Frank D FD; Almoguera, Berta B; Sleiman, Patrick M PM; Raffield, Laura M LM; Correa, Adolfo A; Martin, Lisa W LW; Daviglus, Martha M; Matise, Tara C TC; Ambite, Jose Luis JL; Carlson, Christopher S CS; Do, Ron R; Loos, Ruth J F RJF; Wilkens, Lynne R LR; Le Marchand, Loic L; Haiman, Chris C; Stram, Daniel O DO; Hindorff, Lucia A LA; North, Kari E KE; Kooperberg, Charles C; Cheng, Iona I; Peters, Ulrike U
Publication Date: 2020-03

Variant appearance in text: rs35673026
PubMed Link: 32226016
Variant Present in the following documents:
  • Main text
  • pgen.1008684.pdf
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Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.

Jama Cardiology
Björnsson, Eythór E; Thorleifsson, Guðmar G; Helgadóttir, Anna A; Guðnason, Thórarinn T; Guðbjartsson, Tómas T; Andersen, Karl K; Grétarsdóttir, Sólveig S; Ólafsson, Ísleifur Í; Tragante, Vinicius V; Ólafsson, Ólafur Hreiðar ÓH; Jónsdóttir, Birna B; Eyjólfsson, Guðmundur I GI; Sigurðardóttir, Ólöf Ó; Thorgeirsson, Guðmundur G; Guðbjartsson, Daníel F DF; Thorsteinsdóttir, Unnur U; Hólm, Hilma H; Stefánsson, Kári K
Publication Date: 2020-01-01

Variant appearance in text: rs35673026
PubMed Link: 31746962
Variant Present in the following documents:
  • jamacardiol-5-13-s001.pdf
View BVdb publication page



Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.

Plos One
Elbers, Clara C CC; Guo, Yiran Y; Tragante, Vinicius V; van Iperen, Erik P A EP; Lanktree, Matthew B MB; Castillo, Berta Almoguera BA; Chen, Fang F; Yanek, Lisa R LR; Wojczynski, Mary K MK; Li, Yun R YR; Ferwerda, Bart B; Ballantyne, Christie M CM; Buxbaum, Sarah G SG; Chen, Yii-Der Ida YD; Chen, Wei-Min WM; Cupples, L Adrienne LA; Cushman, Mary M; Duan, Yanan Y; Duggan, David D; Evans, Michele K MK; Fernandes, Jyotika K JK; Fornage, Myriam M; Garcia, Melissa M; Garvey, W Timothy WT; Glazer, Nicole N; Gomez, Felicia F; Harris, Tamara B TB; Halder, Indrani I; Howard, Virginia J VJ; Keller, Margaux F MF; Kamboh, M Ilyas MI; Kooperberg, Charles C; Kritchevsky, Stephen B SB; LaCroix, Andrea A; Liu, Kiang K; Liu, Yongmei Y; Musunuru, Kiran K; Newman, Anne B AB; Onland-Moret, N Charlotte NC; Ordovas, Jose J; Peter, Inga I; Post, Wendy W; Redline, Susan S; Reis, Steven E SE; Saxena, Richa R; Schreiner, Pamela J PJ; Volcik, Kelly A KA; Wang, Xingbin X; Yusuf, Salim S; Zonderland, Alan B AB; Anand, Sonia S SS; Becker, Diane M DM; Psaty, Bruce B; Rader, Daniel J DJ; Reiner, Alex P AP; Rich, Stephen S SS; Rotter, Jerome I JI; Sale, Michèle M MM; Tsai, Michael Y MY; Borecki, Ingrid B IB; Hegele, Robert A RA; Kathiresan, Sekar S; Nalls, Michael A MA; Taylor, Herman A HA; Hakonarson, Hakon H; Sivapalaratnam, Suthesh S; Asselbergs, Folkert W FW; Drenos, Fotios F; Wilson, James G JG; Keating, Brendan J BJ
Publication Date: 2012

Variant appearance in text: rs35673026
PubMed Link: 23236364
Variant Present in the following documents:
  • Main text
  • pone.0050198.pdf
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Maternal ABCA1 genotype is associated with severity of Smith-Lemli-Opitz syndrome and with viability of patients homozygous for null mutations.

European Journal Of Human Genetics : Ejhg
Lanthaler, Barbara B; Steichen-Gersdorf, Elisabeth E; Kollerits, Barbara B; Zschocke, Johannes J; Witsch-Baumgartner, Martina M
Publication Date: 2013-03

Variant appearance in text: LCAT: 340G>C
PubMed Link: 22929031
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

Plos One
Musunuru, Kiran K; Romaine, Simon P R SP; Lettre, Guillaume G; Wilson, James G JG; Volcik, Kelly A KA; Tsai, Michael Y MY; Taylor, Herman A HA; Schreiner, Pamela J PJ; Rotter, Jerome I JI; Rich, Stephen S SS; Redline, Susan S; Psaty, Bruce M BM; Papanicolaou, George J GJ; Ordovas, Jose M JM; Liu, Kiang K; Krauss, Ronald M RM; Glazer, Nicole L NL; Gabriel, Stacey B SB; Fornage, Myriam M; Cupples, L Adrienne LA; Buxbaum, Sarah G SG; Boerwinkle, Eric E; Ballantyne, Christie M CM; Kathiresan, Sekar S; Rader, Daniel J DJ
Publication Date: 2012

Variant appearance in text: rs35673026
PubMed Link: 22629316
Variant Present in the following documents:
  • Main text
  • pone.0036473.pdf
View BVdb publication page