COL3A1 c.3607G>A ;(p.A1203T)

Variant ID: 2-189873731-G-A

NM_000090.3(COL3A1):c.3607G>A;(p.A1203T)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.

Molecular Genetics & Genomic Medicine
Ruscitti, Federica F; Trevisan, Lucia L; Rosti, Giulia G; Gotta, Fabio F; Cianflone, Annalia A; Geroldi, Alessandro A; Origone, Paola P; Pichiecchio, Anna A; Viglio, Simona S; Iascone, Maria M; Mandich, Paola P
Publication Date: 2021-09

Variant appearance in text: COL3A1: A1203T
PubMed Link: 34318601
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1753.pdf
View BVdb publication page



A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.

Molecular Genetics & Genomic Medicine
Ruscitti, Federica F; Trevisan, Lucia L; Rosti, Giulia G; Gotta, Fabio F; Cianflone, Annalia A; Geroldi, Alessandro A; Origone, Paola P; Pichiecchio, Anna A; Viglio, Simona S; Iascone, Maria M; Mandich, Paola P
Publication Date: 2021-09

Variant appearance in text: COL3A1: A1203T
PubMed Link: 34318601
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1753.pdf
View BVdb publication page



Heterogeneous Tumor-Immune Microenvironments among Differentially Growing Metastases in an Ovarian Cancer Patient.

Cell
Jiménez-Sánchez, Alejandro A; Memon, Danish D; Pourpe, Stephane S; Veeraraghavan, Harini H; Li, Yanyun Y; Vargas, Hebert Alberto HA; Gill, Michael B MB; Park, Kay J KJ; Zivanovic, Oliver O; Konner, Jason J; Ricca, Jacob J; Zamarin, Dmitriy D; Walther, Tyler T; Aghajanian, Carol C; Wolchok, Jedd D JD; Sala, Evis E; Merghoub, Taha T; Snyder, Alexandra A; Miller, Martin L ML
Publication Date: 2017-08-24

Variant appearance in text: COL3A1: A1203T
PubMed Link: 28841418
Variant Present in the following documents:
  • mmc4.xls, sheet 6
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: COL3A1: 3607G>A; A1203T
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: COL3A1: 3607G>A; A1203T
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: COL3A1: A1203T
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-6.xlsx, sheet 1
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: COL3A1: A1203T
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-4.xlsx, sheet 1
View BVdb publication page