FBN2 c.2893G>C ;(p.V965L)

Variant ID: 5-127685135-C-G

NM_001999.3(FBN2):c.2893G>C;(p.V965L)

This variant was identified in 10 publications

View GRCh38 version.




Publications:


The conservation of human functional variants and their effects across livestock species.

Communications Biology
Zhao, Rongrong R; Talenti, Andrea A; Fang, Lingzhao L; Liu, Shuli S; Liu, George G; Chue Hong, Neil P NP; Tenesa, Albert A; Hassan, Musa M; Prendergast, James G D JGD
Publication Date: 2022-09-21

Variant appearance in text: rs154001
PubMed Link: 36131008
Variant Present in the following documents:
  • Main text
  • 42003_2022_Article_3961.pdf
View BVdb publication page



Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21

Variant appearance in text: rs154001
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM2_ESM.xls, sheet 1
View BVdb publication page



A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness.

Communications Biology
Choquet, Hélène H; Melles, Ronald B RB; Yin, Jie J; Hoffmann, Thomas J TJ; Thai, Khanh K KK; Kvale, Mark N MN; Banda, Yambazi Y; Hardcastle, Alison J AJ; Tuft, Stephen J SJ; Glymour, M Maria MM; Schaefer, Catherine C; Risch, Neil N; Nair, K Saidas KS; Hysi, Pirro G PG; Jorgenson, Eric E
Publication Date: 2020-06-11

Variant appearance in text: rs154001
PubMed Link: 32528159
Variant Present in the following documents:
  • Main text
  • 42003_2020_Article_1037.pdf
View BVdb publication page



Panel-based targeted exome sequencing reveals novel candidate susceptibility loci for age-related cataracts in Chinese Cohort.

Molecular Genetics & Genomic Medicine
Li, Jian-Kang JK; Li, Li-Li LL; Li, Wei W; Wang, Zi-Wei ZW; Gao, Feng-Juan FJ; Hu, Fang-Yuan FY; Zhang, Sheng-Hai SH; Qu, Shou-Fang SF; Huang, Jie J; Wang, Lu-Sheng LS; Wu, Ji-Hong JH; Chen, Fang F
Publication Date: 2020-07

Variant appearance in text: rs154001
PubMed Link: 32337810
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs154001
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
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: rs154001
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
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: rs154001
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: rs154001
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
View BVdb publication page



Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

Peerj
O'Rawe, Jason A JA; Fang, Han H; Rynearson, Shawn S; Robison, Reid R; Kiruluta, Edward S ES; Higgins, Gerald G; Eilbeck, Karen K; Reese, Martin G MG; Lyon, Gholson J GJ
Publication Date: 2013

Variant appearance in text: rs154001
PubMed Link: 24109560
Variant Present in the following documents:
  • peerj-01-177-s010.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: rs154001
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page