NF1 c.539T>G ;(p.L180*)

Variant ID: 17-29496968-T-G

NM_001042492.2(NF1):c.539T>G;(p.L180*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.

Orphanet Journal Of Rare Diseases
Kang, Eungu E; Kim, Yoon-Myung YM; Choi, Yunha Y; Lee, Yena Y; Kim, JunYoung J; Choi, In Hee IH; Yoo, Han-Wook HW; Yoon, Hee Mang HM; Lee, Beom Hee BH
Publication Date: 2022-01-29

Variant appearance in text: NF1: 539T>G; L180*
PubMed Link: 35093157
Variant Present in the following documents:
  • 13023_2022_Article_2174.pdf
View BVdb publication page



Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression.

Orphanet Journal Of Rare Diseases
Kang, Eungu E; Kim, Yoon-Myung YM; Choi, Yunha Y; Lee, Yena Y; Kim, JunYoung J; Choi, In Hee IH; Yoo, Han-Wook HW; Yoon, Hee Mang HM; Lee, Beom Hee BH
Publication Date: 2022-01-29

Variant appearance in text: NF1: 539T>G; L180*
PubMed Link: 35093157
Variant Present in the following documents:
  • 13023_2022_Article_2174.pdf
View BVdb publication page



Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Cancers
Melloni, Giulia G; Eoli, Marica M; Cesaretti, Claudia C; Bianchessi, Donatella D; Ibba, Maria Cristina MC; Esposito, Silvia S; Scuvera, Giulietta G; Morcaldi, Guido G; Micheli, Roberto R; Piozzi, Elena E; Avignone, Sabrina S; Chiapparini, Luisa L; Pantaleoni, Chiara C; Natacci, Federica F; Finocchiaro, Gaetano G; Saletti, Veronica V
Publication Date: 2019-11-21

Variant appearance in text: NF1: 539T>G; Leu180*
PubMed Link: 31766501
Variant Present in the following documents:
  • Main text
  • cancers-11-01838.pdf
View BVdb publication page



High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Human Mutation
Rojnueangnit, Kitiwan K; Xie, Jing J; Gomes, Alicia A; Sharp, Angela A; Callens, Tom T; Chen, Yunjia Y; Liu, Ying Y; Cochran, Meagan M; Abbott, Mary-Alice MA; Atkin, Joan J; Babovic-Vuksanovic, Dusica D; Barnett, Christopher P CP; Crenshaw, Melissa M; Bartholomew, Dennis W DW; Basel, Lina L; Bellus, Gary G; Ben-Shachar, Shay S; Bialer, Martin G MG; Bick, David D; Blumberg, Bruce B; Cortes, Fanny F; David, Karen L KL; Destree, Anne A; Duat-Rodriguez, Anna A; Earl, Dawn D; Escobar, Luis L; Eswara, Marthanda M; Ezquieta, Begona B; Frayling, Ian M IM; Frydman, Moshe M; Gardner, Kathy K; Gripp, Karen W KW; Hernández-Chico, Concepcion C; Heyrman, Kurt K; Ibrahim, Jennifer J; Janssens, Sandra S; Keena, Beth A BA; Llano-Rivas, Isabel I; Leppig, Kathy K; McDonald, Marie M; Misra, Vinod K VK; Mulbury, Jennifer J; Narayanan, Vinodh V; Orenstein, Naama N; Galvin-Parton, Patricia P; Pedro, Helio H; Pivnick, Eniko K EK; Powell, Cynthia M CM; Randolph, Linda L; Raskin, Salmo S; Rosell, Jordi J; Rubin, Karol K; Seashore, Margretta M; Schaaf, Christian P CP; Scheuerle, Angela A; Schultz, Meredith M; Schorry, Elizabeth E; Schnur, Rhonda R; Siqveland, Elizabeth E; Tkachuk, Amanda A; Tonsgard, James J; Upadhyaya, Meena M; Verma, Ishwar C IC; Wallace, Stephanie S; Williams, Charles C; Zackai, Elaine E; Zonana, Jonathan J; Lazaro, Conxi C; Claes, Kathleen K; Korf, Bruce B; Martin, Yolanda Y; Legius, Eric E; Messiaen, Ludwine L
Publication Date: 2015-11

Variant appearance in text: NF1: 539T>G; Leu180*
PubMed Link: 26178382
Variant Present in the following documents:
  • Main text
  • HUMU-36-1052.pdf
View BVdb publication page