FLNA c.4451A>G ;(p.Q1484R)

Variant ID: X-153587375-T-C

NM_001110556.1(FLNA):c.4451A>G;(p.Q1484R)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Evaluating the Feasibility of Screening Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Diseases: The REST Study.

Journal Of The American Heart Association
Abbasciano, Riccardo Giuseppe RG; Mariscalco, Giovanni G; Barwell, Julian J; Owens, Gareth G; Zakkar, Mustafa M; Joel-David, Lathishia L; Pathak, Suraj S; Adebayo, Adewale A; Shannon, Nora N; Haines, Rebecca Louise RL; Aujla, Hardeep H; Eagle-Hemming, Bryony B; Kumar, Tracy T; Lai, Florence F; Wozniak, Marcin M; Murphy, Gavin G
Publication Date: 2022-04-19

Variant appearance in text: FLNA: 4451A>G
PubMed Link: 35383466
Variant Present in the following documents:
  • JAH3-11-e023741-s001.pdf
  • JAH3-11-e023741.pdf
View BVdb publication page



SMAP is a pipeline for sample matching in proteogenomics.

Nature Communications
Li, Ling L; Niu, Mingming M; Erickson, Alyssa A; Luo, Jie J; Rowbotham, Kincaid K; Guo, Kai K; Huang, He H; Li, Yuxin Y; Jiang, Yi Y; Hur, Junguk J; Liu, Chunyu C; Peng, Junmin J; Wang, Xusheng X
Publication Date: 2022-02-08

Variant appearance in text: FLNA: Q1484R
PubMed Link: 35136070
Variant Present in the following documents:
  • 41467_2022_28411_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: FLNA: 4451A>G; Q1484R
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: FLNA: 4451A>G; Gln1484Arg
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 10
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: FLNA: 4451A>G; Gln1484Arg
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Proteogenomics connects somatic mutations to signalling in breast cancer.

Nature
Mertins, Philipp P; Mani, D R DR; Ruggles, Kelly V KV; Gillette, Michael A MA; Clauser, Karl R KR; Wang, Pei P; Wang, Xianlong X; Qiao, Jana W JW; Cao, Song S; Petralia, Francesca F; Kawaler, Emily E; Mundt, Filip F; Krug, Karsten K; Tu, Zhidong Z; Lei, Jonathan T JT; Gatza, Michael L ML; Wilkerson, Matthew M; Perou, Charles M CM; Yellapantula, Venkata V; Huang, Kuan-lin KL; Lin, Chenwei C; McLellan, Michael D MD; Yan, Ping P; Davies, Sherri R SR; Townsend, R Reid RR; Skates, Steven J SJ; Wang, Jing J; Zhang, Bing B; Kinsinger, Christopher R CR; Mesri, Mehdi M; Rodriguez, Henry H; Ding, Li L; Paulovich, Amanda G AG; Fenyƶ, David D; Ellis, Matthew J MJ; Carr, Steven A SA; ,
Publication Date: 2016-06-02

Variant appearance in text: FLNA: Q1484R; rs200130356
PubMed Link: 27251275
Variant Present in the following documents:
  • NIHMS778057-supplement-supp_table5.xlsx, sheet 2
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: FLNA: Q1484R
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-9.xlsx, sheet 1
View BVdb publication page



Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

The Hugo Journal
Hu, Hao H; Wrogemann, Klaus K; Kalscheuer, Vera V; Tzschach, Andreas A; Richard, Hugues H; Haas, Stefan A SA; Menzel, Corinna C; Bienek, Melanie M; Froyen, Guy G; Raynaud, Martine M; Van Bokhoven, Hans H; Chelly, Jamel J; Ropers, Hilger H; Chen, Wei W
Publication Date: 2009-12

Variant appearance in text: FLNA: Q1484R
PubMed Link: 21836662
Variant Present in the following documents:
  • Main text
  • 11568_2010_Article_9137.pdf
View BVdb publication page