RET c.1546C>T ;(p.P516S)

Variant ID: 10-43607570-C-T

NM_020975.4(RET):c.1546C>T;(p.P516S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: RET: 1546C>T; P516S
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s004.xlsx, sheet 2
View BVdb publication page



Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction.

American Journal Of Human Genetics
Kolvenbach, Caroline M CM; Dworschak, Gabriel C GC; Frese, Sandra S; Japp, Anna S AS; Schuster, Peggy P; Wenzlitschke, Nina N; Yilmaz, Öznur Ö; Lopes, Filipa M FM; Pryalukhin, Alexey A; Schierbaum, Luca L; van der Zanden, Loes F M LFM; Kause, Franziska F; Schneider, Ronen R; Taranta-Janusz, Katarzyna K; Szczepańska, Maria M; Pawlaczyk, Krzysztof K; Newman, William G WG; Beaman, Glenda M GM; Stuart, Helen M HM; Cervellione, Raimondo M RM; Feitz, Wouter F J WFJ; van Rooij, Iris A L M IALM; Schreuder, Michiel F MF; Steffens, Martijn M; Weber, Stefanie S; Merz, Waltraut M WM; Feldkötter, Markus M; Hoppe, Bernd B; Thiele, Holger H; Altmüller, Janine J; Berg, Christoph C; Kristiansen, Glen G; Ludwig, Michael M; Reutter, Heiko H; Woolf, Adrian S AS; Hildebrandt, Friedhelm F; Grote, Phillip P; Zaniew, Marcin M; Odermatt, Benjamin B; Hilger, Alina C AC
Publication Date: 2019-05-02

Variant appearance in text: RET: 1546C>T
PubMed Link: 31051115
Variant Present in the following documents:
  • mmc3.pdf
View BVdb publication page



Medullary thyroid cancer, leukemia, mesothelioma and meningioma associated with germline APC and RASAL1 variants: a new syndrome?

Hormones (Athens, Greece)
Angelousi, Anna A; Settas, Nikolaos N; Faucz, Fabio R FR; Lyssikatos, Charalampos C; Quezado, Martha M; Nasiri-Ansari, Narjes N; Stratakis, Constantine A CA; Kassi, Eva E
Publication Date: 2017-10

Variant appearance in text: RET: 1546C>T
PubMed Link: 29518763
Variant Present in the following documents:
  • Main text
View BVdb publication page