FOXC1 c.889C>T ;(p.P297S)

Variant ID: 6-1611569-C-T

NM_001453.2(FOXC1):c.889C>T;(p.P297S)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives.

Clinical Ophthalmology (Auckland, N.Z.)
Michels, Kristi K; Bohnsack, Brenda L BL
Publication Date: 2023

Variant appearance in text: FOXC1: P297S
PubMed Link: 36926528
Variant Present in the following documents:
  • opth-17-819.pdf
View BVdb publication page



Animal Model Contributions to Primary Congenital Glaucoma.

Journal Of Ophthalmology
Xia, Qiongrong Q; Zhang, Dingding D; Zhuang, Yue Y; Dai, Yuqian Y; Jia, Haiping H; Du, Qiu Q; Wen, Taishen T; Jiang, Yuanyuan Y
Publication Date: 2022

Variant appearance in text: rs79691946
PubMed Link: 35663518
Variant Present in the following documents:
  • Main text
  • JOPH2022-6955461.pdf
View BVdb publication page



Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1.

Genes
Ahmed, Mariya R MR; Sethna, Saumil S; Krueger, Laura A LA; Yang, Michael B MB; Hufnagel, Robert B RB
Publication Date: 2022-02-24

Variant appearance in text: FOXC1: P297S
PubMed Link: 35327965
Variant Present in the following documents:
  • genes-13-00411.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: FOXC1: P297S; rs79691946
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.

Bmc Medical Genomics
Wang, Rui R; Wang, Wei-Qian WQ; Li, Xiao-Qin XQ; Zhao, Juan J; Yang, Kun K; Feng, Yong Y; Guo, Meng-Meng MM; Liu, Min M; Liu, Xing X; Wang, Xi X; Yuan, Yong-Yi YY; Gao, Xue X; Xu, Jin-Cao JC
Publication Date: 2021-11-22

Variant appearance in text: FOXC1: 889C>T; Pro297Ser
PubMed Link: 34809627
Variant Present in the following documents:
  • 12920_2021_1130_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Updates on the molecular genetics of primary congenital glaucoma (Review).

Experimental And Therapeutic Medicine
Ling, Chen C; Zhang, Dingding D; Zhang, Jing J; Sun, Huanxin H; Du, Qiu Q; Li, Xuefei X
Publication Date: 2020-08

Variant appearance in text: rs79691946
PubMed Link: 32742340
Variant Present in the following documents:
  • Main text
  • etm-20-02-0968.pdf
View BVdb publication page



Childhood glaucoma genes and phenotypes: Focus on FOXC1 mutations causing anterior segment dysgenesis and hearing loss.

Experimental Eye Research
Gauthier, Angela C AC; Wiggs, Janey L JL
Publication Date: 2020-01

Variant appearance in text: FOXC1: 889C>T; P297S
PubMed Link: 31836490
Variant Present in the following documents:
  • Main text
View BVdb publication page



Congenital aniridia: etiology, manifestations and management.

Expert Review Of Ophthalmology
Samant, Monica M; Chauhan, Bharesh K BK; Lathrop, Kira L KL; Nischal, Ken K KK
Publication Date: 2016

Variant appearance in text: FOXC1: Pro297Ser
PubMed Link: 30100922
Variant Present in the following documents:
  • Main text
View BVdb publication page



FOXC1, the new player in the cancer sandbox.

Oncotarget
Elian, Fahed A FA; Yan, Elizabeth E; Walter, Michael A MA
Publication Date: 2018-01-30

Variant appearance in text: FOXC1: P297S
PubMed Link: 29487724
Variant Present in the following documents:
  • oncotarget-09-8165.pdf
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: FOXC1: 889C>T; Pro297Ser
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Rare FOXC1 variants in congenital glaucoma: identification of translation regulatory sequences.

European Journal Of Human Genetics : Ejhg
Medina-Trillo, Cristina C; Aroca-Aguilar, José-Daniel JD; Méndez-Hernández, Carmen-Dora CD; Morales, Laura L; García-Antón, Maite M; García-Feijoo, Julián J; Escribano, Julio J
Publication Date: 2016-05

Variant appearance in text: FOXC1: 889C>T; P297S; rs79691946
PubMed Link: 26220699
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functionally significant, rare transcription factor variants in tetralogy of Fallot.

Plos One
Töpf, Ana A; Griffin, Helen R HR; Glen, Elise E; Soemedi, Rachel R; Brown, Danielle L DL; Hall, Darroch D; Rahman, Thahira J TJ; Eloranta, Jyrki J JJ; Jüngst, Christoph C; Stuart, A Graham AG; O'Sullivan, John J; Keavney, Bernard D BD; Goodship, Judith A JA
Publication Date: 2014

Variant appearance in text: FOXC1: 889C>T; P297S; rs79691946
PubMed Link: 25093829
Variant Present in the following documents:
  • Main text
  • pone.0095453.pdf
View BVdb publication page



Genetic and genomic analysis of classic aniridia in Saudi Arabia.

Molecular Vision
Khan, Arif O AO; Aldahmesh, Mohammed A MA; Alkuraya, Fowzan S FS
Publication Date: 2011-03-11

Variant appearance in text: FOXC1: 889C>T; P297S
PubMed Link: 21423868
Variant Present in the following documents:
  • Main text
  • mv-v17-708.pdf
View BVdb publication page



Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies.

Molecular Vision
Kaur, Kulvinder K; Ragge, Nicola K NK; Ragoussis, Jiannis J
Publication Date: 2009-07-13

Variant appearance in text: FOXC1: Pro297Ser
PubMed Link: 19626132
Variant Present in the following documents:
  • Main text
  • mv-v15-1366.pdf
View BVdb publication page



Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.

European Journal Of Human Genetics : Ejhg
Tümer, Zeynep Z; Bach-Holm, Daniella D
Publication Date: 2009-12

Variant appearance in text: FOXC1: Pro297Ser
PubMed Link: 19513095
Variant Present in the following documents:
  • Main text
View BVdb publication page